MTM1

Summary

MTM1 (myotubularin 1, HGNC:7448) is a protein-coding gene on chromosome Xq28, encoding Myotubularin (Q13496). Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy.

Source: NCBI Gene 4534 — RefSeq curated summary.

At a glance

• Gene–disease (curated): X-linked myotubular myopathy (Definitive, ClinGen)
• Clinical variants (ClinVar): 947 total — 183 pathogenic, 84 likely-pathogenic
• Phenotypes (HPO): 63
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000252

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7448
Approved symbol	MTM1
Name	myotubularin 1
Location	Xq28
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000171100
Ensembl biotype	protein_coding
OMIM	300415
Entrez	4534

Gene structure

Transcript identifiers

Ensembl transcripts: 58 — 44 protein_coding, 7 nonsense_mediated_decay, 5 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000306167, ENST00000370393, ENST00000370396, ENST00000490530, ENST00000684910, ENST00000685439, ENST00000685944, ENST00000686212, ENST00000687215, ENST00000687365, ENST00000688152, ENST00000688403, ENST00000689314, ENST00000689694, ENST00000689810, ENST00000690282, ENST00000690351, ENST00000691232, ENST00000691482, ENST00000691686, ENST00000691851, ENST00000692015, ENST00000692638, ENST00000692852, ENST00000692915, ENST00000693422, ENST00000866457, ENST00000866458, ENST00000866459, ENST00000866460, ENST00000866461, ENST00000866462, ENST00000866463, ENST00000866464, ENST00000866465, ENST00000866466, ENST00000866467, ENST00000866468, ENST00000866469, ENST00000866470, ENST00000866471, ENST00000866472, ENST00000866473, ENST00000866474, ENST00000866475, ENST00000866476, ENST00000866477, ENST00000866478, ENST00000866479, ENST00000924084, ENST00000924085, ENST00000924086, ENST00000949259, ENST00000949260, ENST00000949261, ENST00000949262, ENST00000949263, ENST00000949264

RefSeq mRNA: 4 — MANE Select: NM_000252 NM_000252, NM_001376906, NM_001376907, NM_001376908

CCDS: CCDS14694

Canonical transcript exons

ENST00000370396 — 15 exons

Exon	Start	End
ENSE00001209472	150568621	150568662
ENSE00001209481	150598592	150598686
ENSE00001452583	150671428	150673143
ENSE00003471580	150659664	150659756
ENSE00003480949	150614589	150614699
ENSE00003515670	150657821	150658027
ENSE00003566589	150645683	150645871
ENSE00003580713	150660371	150660484
ENSE00003623254	150638943	150639026
ENSE00003638194	150663433	150663609
ENSE00003647417	150649716	150649901
ENSE00003647423	150592605	150592677
ENSE00003648599	150641269	150641418
ENSE00003672204	150596498	150596570
ENSE00003684863	150619038	150619139

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 92.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.3255 / max 72.6903, expressed in 1714 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197968	8.3255	1714

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	92.40	gold quality
rectum	UBERON:0001052	88.77	gold quality
germinal epithelium of ovary	UBERON:0001304	87.84	gold quality
monocyte	CL:0000576	87.12	gold quality
colonic mucosa	UBERON:0000317	86.99	gold quality
mononuclear cell	CL:0000842	86.66	gold quality
mucosa of sigmoid colon	UBERON:0004993	86.36	gold quality
leukocyte	CL:0000738	86.35	gold quality
jejunal mucosa	UBERON:0000399	85.54	gold quality
colonic epithelium	UBERON:0000397	85.46	gold quality
calcaneal tendon	UBERON:0003701	85.22	gold quality
bone marrow cell	CL:0002092	85.19	gold quality
epithelium of nasopharynx	UBERON:0001951	84.07	gold quality
mucosa of transverse colon	UBERON:0004991	84.03	gold quality
transverse colon	UBERON:0001157	83.99	gold quality
right adrenal gland	UBERON:0001233	83.81	gold quality
right adrenal gland cortex	UBERON:0035827	83.81	gold quality
oocyte	CL:0000023	83.74	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.53	gold quality
left adrenal gland	UBERON:0001234	83.06	gold quality
left adrenal gland cortex	UBERON:0035825	82.73	gold quality
hair follicle	UBERON:0002073	82.29	gold quality
choroid plexus epithelium	UBERON:0003911	82.21	gold quality
adrenal gland	UBERON:0002369	82.17	gold quality
large intestine	UBERON:0000059	82.12	gold quality
seminal vesicle	UBERON:0000998	82.00	gold quality
muscle of leg	UBERON:0001383	81.97	gold quality
colon	UBERON:0001155	81.96	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.91	gold quality
gastrocnemius	UBERON:0001388	81.87	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.67

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

126 targeting MTM1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• Myotubularin is the 2nd member of the PTP superfamily to utilize an inositol lipid as its physiologic substrate and activity toward PI(3)P may be common to all myotubularin family enzymes. Loss of PI(3)P phosphatase activity correlates with human disease. (PMID:10900271)
• Expression of human myotubularin inhibited growth of S. pombe and induced a vacuolar phenotype similar to mutants of VPS34, a phosphatidylinositol 3-kinase (PI3K). Myotubularin directly dephosphorylates phosphatidylinositol 3-monophosphate (PtdIns3P) (PMID:11001925)
• Shows that most MTM1 mutations including missense lead to a strong decrease in protein level : the associated myotubular myopathy is most probably due to total loss-of-function (PMID:11456308)
• Heterozygous female carriers of MTM1 mutations who develop myopathic symptoms may present with limb girdle and facial weakness and may manifest a skewed pattern of X-chromosome inactivation. (PMID:11552027)
• mutations in fifty patients with X-linked myotubular myopathy in the United States (PMID:11793470)
• The phosphatase activity of myotubularin MTM1 towards the 3-position of phosphatidylinositol 3-phosphate is conserved in homologous proteins MTMR2 and MTMR3 (PMID:11846405)
• Localization to Rac1-induced cell membrane ruffles is dependent on the presence of a domain highly conserved in the myotubularin family. Myotubularin may dephosphorylate a subpool of PtdIns3P at the plasma membrane. (PMID:12118066)
• Knocking-out MTM1 in mouse reproduces a myotubular myopathy phenotype and suggests a role for myotubularin in structural organization of muscle fibers (PMID:12391329)
• REVIEW: the cellular mechanisms of PTEN and MTMR function and their role in the etiology of cancer and other human diseases (PMID:12495846)
• 192 different mutations in the MTM1 gene have been described in 328 families. (PMID:12522554)
• investigation of MTM1 and MTMR6 and finding that they use PtdIns(3,5)P2 in addition to PtdIns3P as a substrate in vitro (PMID:12646134)
• Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. (PMID:12847286)
• REVIEW: Myotubularin defines a large family of cooperating catalytically active and inactive phosphatases, conserved from yeast to human. Myotubularin homologs, MTMR2 and MTMR13, are mutated in autosomal recessive Charcot-Marie-Tooth neuropathies. (PMID:12925573)
• Myotubularin MTM1 is implicated in intracellular trafficking of the glucose receptor GLUT4 (PMID:14500759)
• role of MTM1 in the production of phosphatidylinositol 5-phosphate in mammalian cells suggesting the lack of transformation of phosphatidylinositol 3,5-bisphosphate into PtdIns(5)P might be an important component in the etiology of myotubular myopathy (PMID:14660569)
• myotubularin phosphatase physiologically functions in late endosomal trafficking and vacuolar morphology through interaction with PtdIns(3,5)P(2). (PMID:14722070)
• We newly identified 26 unrelated Japanese patients with MTM1 mutations by genomic DNA and transcript analysis, including 12 novel mutations. (PMID:15725586)
• Two families had a myopathy affecting only women, with asymmetric weakness, skeletal asymmetry, and an elevated hemidiaphragm. One family had a myotubularin stop codon mutation in exon 9; the other had a splice site mutation in exon 13. (PMID:15883335)
• Patients with MTM1 missense mutations had larger myofiber diameters than those with truncation/deletion mutations. These data indicate that differences in myofiber size correlate with MTM1 mutation type and patient outcome. (PMID:17537630)
• X-linked myotubular myopathy of baby boy has new mutation of mtm1. (PMID:17621527)
• The diagnosis of myotubular myopathy was confirmed by genetic analysis revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene. (PMID:17827085)
• REVIEW : MTM1 and homologous proteins are mutated in several neuromuscular diseases (PMID:18429927)
• A phylogenetic study revealing co-evolution of myotubularins with PI 3-kinase class III complex (PMID:18774718)
• Data show that an atypical, late-onset form of MTM1-related centronuclear myopathy has a new histological marker “Necklace fibers”. (PMID:19084976)
• A base pair change was detected in exon 11 of the MTM1 gene: c.1160C>A, which caused an amino acid change, p.S387Y. The father’s gene was normal but the mother had the same mutation as her son and was thus a carrier. (PMID:19129059)
• Disruption of MTM1 in mouse leads to defects in triad structure, a proposed mechanism for the related muscle disease (PMID:19846786)
• Myotubularin MTM1 forms cytosolic needle-like structures upon stress (PMID:20140253)
• hemizygous mutations in the MTM1 gene including c.1261-10A>G in case, 1, c.70C>T (R24X) in case 2, and a previously unreported mutation, c.924_926delCTT(p. F308del), in case 3 (PMID:20358311)
• Novel MTM1 antibodies for molecular diagnosis, and identification of novel deep intronic mutations (PMID:20434914)
• Sequence analysis of the entire coding region of the MTM1 gene identified a hemizygous deletion of the T nucleotide at position 431 in exon 6 (c.431delT [p.Leu144fs]), which results in frameshift at codon 144. (PMID:20500434)
• mutations in MTM1 disrupted the MTM1-desmin complex, resulting in abnormal intermediate filament assembly and architecture in muscle cells (PMID:21135508)
• Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate. (PMID:21478156)
• A nonsense mutation Arg486STOP was identified in exon 7 of the MTM1 gene. (PMID:21488203)
• data explain the basis for phenotypic variability among human patients with MTM1 p.R69C mutations and establish the Mtm1 p.R69C mouse as a valuable model for the disease, as its less severe phenotype will expand the scope of testable preclinical therapies (PMID:22068590)
• The patients of Myopathy had a novel heterozygous splice site mutation in the myotubularin gene, MTM1 (c.867+1G>T). Analysis of MTM1 cDNA revealed that the mutation resulted in aberrant splicing with variable exon skipping. (PMID:22101172)
• Mutations in specific myotubularins such as MTM1 result in myotubular myopathy and Charcot-Marie-Tooth peripheral neuropathy. (Review) (PMID:22403079)
• Large duplications in MTM1 may account for a number of Centronuclear myopathy cases that have remained genetically unresolved. (PMID:22968136)
• Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 proteins result in reduction of both myotubularin and MTMR12 (PMID:23818870)
• mutations in SPEG cause a centronuclear myopathy phenotype as a result of its interaction with MTM1. (PMID:25087613)
• This study demonistrated that MTM1 mutation releated to Centronuclear myopathy. (PMID:25957634)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	mtm1	ENSDARG00000037560
mus_musculus	Mtm1	ENSMUSG00000031337
rattus_norvegicus	Mtm1	ENSRNOG00000002516
drosophila_melanogaster	mtm	FBGN0025742
drosophila_melanogaster	Sbf	FBGN0025802
drosophila_melanogaster	Mtmr6	FBGN0028497
drosophila_melanogaster	CG14411	FBGN0030582
drosophila_melanogaster	CG3632	FBGN0030735
drosophila_melanogaster	CG5026	FBGN0035945
caenorhabditis_elegans	mtm-1	WBGENE00003475
caenorhabditis_elegans		WBGENE00003476
caenorhabditis_elegans		WBGENE00003477
caenorhabditis_elegans		WBGENE00003478
caenorhabditis_elegans		WBGENE00003479
caenorhabditis_elegans	mtm-10	WBGENE00021683

Paralogs (13): MTMR7 (ENSG00000003987), MTMR11 (ENSG00000014914), MTMR1 (ENSG00000063601), MTMR2 (ENSG00000087053), SBF1 (ENSG00000100241), MTMR3 (ENSG00000100330), MTMR8 (ENSG00000102043), MTMR9 (ENSG00000104643), MTMR4 (ENSG00000108389), SBF2 (ENSG00000133812), MTMR6 (ENSG00000139505), MTMR12 (ENSG00000150712), MTMR10 (ENSG00000166912)

Protein

Protein identifiers

Myotubularin — Q13496 (reviewed: Q13496)

Alternative names: Phosphatidylinositol-3,5-bisphosphate 3-phosphatase, Phosphatidylinositol-3-phosphate phosphatase

All UniProt accessions (15): A0A8I5KNI6, A0A8I5KQR6, A0A8I5KRS4, A0A8I5KT87, A0A8I5KVB1, A0A8I5KVR9, A0A8I5KW93, A0A8I5KYA6, A0A8I5KYJ1, A0A8I5KZ76, A0A8I5KZ85, A0A8I5QJL1, A0A8I5QJV9, B7Z499, Q13496

UniProt curated annotations — full annotation on UniProt →

Function. Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis. In skeletal muscles, stabilizes MTMR12 protein levels.

Subunit / interactions. Heterodimer with MTMR12. Interacts with KMT2A/MLL1 (via SET domain). Interacts with DES in skeletal muscle but not in cardiac muscle. Interacts with SPEG.

Subcellular location. Cytoplasm. Cell membrane. Cell projection. Filopodium. Ruffle. Late endosome. Myofibril. Sarcomere.

Disease relevance. Myopathy, centronuclear, X-linked (CNMX) [MIM:310400] A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Allosterically activated by phosphatidylinositol 5-phosphate (PI5P).

Domain organisation. The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides.

Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q13496-1	1	yes
Q13496-2	2

RefSeq proteins (4): NP_000243, NP_001363835, NP_001363836, NP_001363837 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000387	Tyr_Pase_dom	Domain
IPR003595	Tyr_Pase_cat	Domain
IPR004182	GRAM	Domain
IPR010569	Myotubularin-like_Pase_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR016130	Tyr_Pase_AS	Active_site
IPR029021	Prot-tyrosine_phosphatase-like	Homologous_superfamily
IPR030564	Myotubularin	Family

Pfam: PF02893, PF06602

Enzyme classification (BRENDA):

• EC 3.1.3.64 — phosphatidylinositol-3-phosphatase (BRENDA: 10 organisms, 32 substrates, 7 inhibitors, 2 Km, 0 kcat entries)
• EC 3.1.3.95 — phosphatidylinositol-3,5-bisphosphate 3-phosphatase (BRENDA: 2 organisms, 16 substrates, 1 inhibitors, 0 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
INOSITOL 1,3-BISPHOSPHATE	0.0008–0.0037	2

Catalyzed reactions (Rhea), 5 shown:

• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate (RHEA:12316)
• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate (RHEA:39019)
• 1,2-dioctanoyl-sn-glycero-3-phospho-(1-D-myo-inositol-3-phosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate (RHEA:42328)
• 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate (RHEA:45632)
• 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate (RHEA:45636)

UniProt features (114 total): sequence variant 61, binding site 21, mutagenesis site 18, modified residue 4, domain 2, region of interest 2, compositionally biased region 2, chain 1, sequence conflict 1, splice variant 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13496-F1	90.10	0.80

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 375 (phosphocysteine intermediate)

Ligand- & substrate-binding residues (21): 313; 313; 314; 314; 376; 376; 377; 377; 378; 378; 379; 379 …

Post-translational modifications (4): 13, 18, 495, 588

Mutagenesis-validated functional residues (18):

Position	Phenotype
255	disrupts interaction with des.
257	no effect on subcellular location.
269	disrupts interaction with des. does not affect lipid phosphatase activity.
278	localizes to plasma membrane extensions. does not affect interaction with des.
375	no effect on subcellular location.
375	lacks activity toward pi3p. does not affect interaction with des or mtmr12.
377	no effect on subcellular location.
380	does not affect interaction with des.
394	produces an unstable protein.
410	produces an unstable protein.
420	does not affect interaction with des.
443	produces an unstable protein.
474–603	reduces mtmr12 protein levels in myotubes.
114	reduced response to pi5p.
181	disrupts interaction with des. does not affect lipid phosphatase activity.
206	disrupts interaction with des. does not affect lipid phosphatase activity.
209	disrupts interaction with des. does not affect lipid phosphatase activity.
220	loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-1660499	Synthesis of PIPs at the plasma membrane
R-HSA-1660516	Synthesis of PIPs at the early endosome membrane
R-HSA-1660517	Synthesis of PIPs at the late endosome membrane
R-HSA-1430728	Metabolism
R-HSA-1483255	PI Metabolism
R-HSA-1483257	Phospholipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 0 (showing top):

GO Biological Process (22): autophagosome assembly (GO:0000045), protein dephosphorylation (GO:0006470), phosphatidylinositol biosynthetic process (GO:0006661), mitochondrion organization (GO:0007005), endosome to lysosome transport (GO:0008333), protein transport (GO:0015031), TOR signaling (GO:0031929), negative regulation of TOR signaling (GO:0032007), negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), regulation of vacuole organization (GO:0044088), intermediate filament organization (GO:0045109), muscle cell cellular homeostasis (GO:0046716), phosphatidylinositol dephosphorylation (GO:0046856), mitochondrion distribution (GO:0048311), skeletal muscle tissue growth (GO:0048630), positive regulation of skeletal muscle tissue growth (GO:0048633), negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898), negative regulation of autophagosome assembly (GO:1902902), lipid metabolic process (GO:0006629), dephosphorylation (GO:0016311)

GO Molecular Function (7): phosphatidylinositol-3-phosphate phosphatase activity (GO:0004438), phosphoprotein phosphatase activity (GO:0004721), intermediate filament binding (GO:0019215), phosphatidylinositol binding (GO:0035091), phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (12): ruffle (GO:0001726), cytoplasm (GO:0005737), late endosome (GO:0005770), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020), filopodium (GO:0030175), I band (GO:0031674), endosome (GO:0005768), endomembrane system (GO:0012505), sarcomere (GO:0030017), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
PI Metabolism	3
Phospholipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
phosphatidylinositol metabolic process	2
negative regulation of intracellular signal transduction	2
binding	2
Atg12 activating enzyme activity	1
protein-phosphatidylethanolamide deconjugating activity	1
Atg12 conjugating enzyme activity	1
Atg12 ligase activity	1
organelle assembly	1
Atg1/ULK1 kinase complex assembly	1
autophagosome organization	1
dephosphorylation	1
protein modification process	1
biosynthetic process	1
organelle organization	1
lysosomal transport	1
intercellular transport	1
vesicle-mediated transport	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
intracellular signal transduction	1
TOR signaling	1
regulation of TOR signaling	1
regulation of proteasomal ubiquitin-dependent protein catabolic process	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
negative regulation of proteasomal protein catabolic process	1
negative regulation of ubiquitin-dependent protein catabolic process	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
intracellular signaling cassette	1
vacuole organization	1
regulation of organelle organization	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
cellular homeostasis	1
phospholipid dephosphorylation	1
mitochondrion localization	1
skeletal muscle tissue development	1
developmental growth	1

Protein interactions and networks

STRING

1276 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTM1	MTMR14	Q8NCE2	949
MTM1	PIK3C3	Q8NEB9	939
MTM1	DNM2	P50570	926
MTM1	MAMLD1	Q13495	908
MTM1	HACD1	B0YJ81	862
MTM1	RYR1	P21817	842
MTM1	PIK3R4	Q99570	815
MTM1	BIN1	O00499	761
MTM1	SPEG	Q15772	702
MTM1	FIG4	Q92562	604
MTM1	CCDC78	A2IDD5	596
MTM1	CMTM1	Q8IZ96	578
MTM1	DYSF	O75923	570
MTM1	PLEK2	Q9NYT0	562
MTM1	CACNA1S	Q13698	561

IntAct

47 interactions, top by confidence:

A	B	Type	Score
DES	MTM1	psi-mi:“MI:0915”(physical association)	0.710
MTM1	DES	psi-mi:“MI:0407”(direct interaction)	0.710
MTM1	DES	psi-mi:“MI:0915”(physical association)	0.710
DES	MTM1	psi-mi:“MI:0403”(colocalization)	0.710
DES	MTM1	psi-mi:“MI:0407”(direct interaction)	0.710
DES	DES	psi-mi:“MI:0915”(physical association)	0.710
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
MTM1	BIN1	psi-mi:“MI:0915”(physical association)	0.600
BIN1	MTM1	psi-mi:“MI:0915”(physical association)	0.600
MTM1	BIN1	psi-mi:“MI:0407”(direct interaction)	0.600
MTM1	MTMR12	psi-mi:“MI:0915”(physical association)	0.570
MTMR12	MTM1	psi-mi:“MI:0915”(physical association)	0.570
MTM1	MTMR12	psi-mi:“MI:0407”(direct interaction)	0.570
MTM1	MTMR12	psi-mi:“MI:0403”(colocalization)	0.570
TRIML2	SRGAP2	psi-mi:“MI:0914”(association)	0.530
Pip4k2a	MTM1	psi-mi:“MI:0914”(association)	0.500
Pip4k2a	MTM1	psi-mi:“MI:0915”(physical association)	0.500
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
MTM1	Des	psi-mi:“MI:0915”(physical association)	0.460

BioGRID (92): MTM1 (Reconstituted Complex), MTM1 (Affinity Capture-Western), BIN1 (Affinity Capture-Western), CUL4A (Co-fractionation), HLA-C (Affinity Capture-MS), KIAA1468 (Affinity Capture-MS), KRT2 (Affinity Capture-MS), KRT5 (Affinity Capture-MS), SNX17 (Affinity Capture-MS), MTM1 (Affinity Capture-MS), MTM1 (Affinity Capture-MS), MTFR1 (Affinity Capture-MS), SAMM50 (Affinity Capture-MS), CALU (Affinity Capture-MS), CIAO1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JXT6, A0JMF6, A0JMK5, A2ALK8, A2BGG1, A6QLT4, A7MB43, G5ED68, O13819, O14830, P26045, P33402, P51432, Q09M05, Q13496, Q13613, Q15111, Q3USB7, Q4KWH5, Q4R6N0, Q4U2V3, Q52KU6, Q5EB32, Q5F452, Q5R6F6, Q5R9S3, Q5U581, Q62688, Q6AXQ4, Q6NU08, Q6TEL0, Q6XPS3, Q7TPM9, Q7ZXF1, Q8K394, Q8NCE2, Q8VE11, Q8VEL2, Q96EF0, Q96MI9

Diamond homologs: A0A0G2JXT6, A0JMK5, A2BGG1, A4FU01, A6QLT2, A6QLT4, A7MB43, E9PXF8, F4J3T8, F4JWB3, G5ED68, O13819, P47147, Q13496, Q13613, Q13614, Q13615, Q22712, Q2KJ24, Q3V1L6, Q52KU6, Q54GQ1, Q55E58, Q5EB32, Q5F452, Q5PQT2, Q5R6F6, Q5R9S3, Q5REB9, Q5U581, Q5ZIV1, Q6AXQ4, Q6NTN5, Q6NU08, Q6TEL0, Q7TPM9, Q7ZXF1, Q80TA6, Q8K296, Q8VE11

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TFEB	“up-regulates quantity by expression”	MTM1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

947 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	183
Likely pathogenic	84
Uncertain significance	192
Likely benign	267
Benign	64

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1071778	NM_000252.3(MTM1):c.339T>A (p.Cys113Ter)	Pathogenic
1072286	NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter)	Pathogenic
1074917	NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter)	Pathogenic
1075319	NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter)	Pathogenic
11054	NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys)	Pathogenic
11055	NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)	Pathogenic
11057	NM_000252.3(MTM1):c.141_144del	Pathogenic
11059	NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)	Pathogenic
11060	NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)	Pathogenic
11061	NM_000252.3(MTM1):c.605del (p.Leu202fs)	Pathogenic
1172673	NM_000252.3(MTM1):c.1400del (p.Leu467fs)	Pathogenic
1301887	NM_000252.3(MTM1):c.63+1G>T	Pathogenic
1338243	NM_000252.3(MTM1):c.1109C>G (p.Ser370Ter)	Pathogenic
1338304	NM_000252.3(MTM1):c.197C>T (p.Thr66Ile)	Pathogenic
1338336	NM_000252.3(MTM1):c.1228G>T (p.Glu410Ter)	Pathogenic
1360711	NM_000252.3(MTM1):c.310G>T (p.Glu104Ter)	Pathogenic
1371544	NM_000252.3(MTM1):c.819_820dup (p.Leu274fs)	Pathogenic
1379211	NM_000252.3(MTM1):c.548G>A (p.Trp183Ter)	Pathogenic
1457292	NC_000023.10:g.(?149761067)(149761149_?)del	Pathogenic
1458095	NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs)	Pathogenic
1459032	NM_000252.3(MTM1):c.590C>T (p.Thr197Ile)	Pathogenic
158893	NM_000252.3(MTM1):c.1053+1G>C	Pathogenic
158894	NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)	Pathogenic
158895	NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)	Pathogenic
158896	NM_000252.3(MTM1):c.1120C>G (p.His374Asp)	Pathogenic
158898	NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter)	Pathogenic
158899	NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter)	Pathogenic
158900	NM_000252.3(MTM1):c.1139A>T (p.Asp380Val)	Pathogenic
158901	NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr)	Pathogenic
158903	NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter)	Pathogenic

SpliceAI

2959 predictions. Top by Δscore:

Variant	Effect	Δscore
X:150596489:T:A	acceptor_gain	1.0000
X:150596493:TCTA:T	acceptor_loss	1.0000
X:150596494:CTA:C	acceptor_loss	1.0000
X:150596495:TA:T	acceptor_loss	1.0000
X:150596496:A:AG	acceptor_gain	1.0000
X:150596496:AGAC:A	acceptor_gain	1.0000
X:150596497:G:GT	acceptor_gain	1.0000
X:150596497:GA:G	acceptor_gain	1.0000
X:150596497:GAC:G	acceptor_gain	1.0000
X:150596497:GACG:G	acceptor_gain	1.0000
X:150596497:GACGT:G	acceptor_gain	1.0000
X:150596568:CTG:C	donor_gain	1.0000
X:150596568:CTGGT:C	donor_loss	1.0000
X:150596569:TGGT:T	donor_loss	1.0000
X:150596571:G:GC	donor_loss	1.0000
X:150596571:G:GG	donor_gain	1.0000
X:150596572:T:G	donor_loss	1.0000
X:150614695:GTAAA:G	donor_gain	1.0000
X:150614700:G:GG	donor_gain	1.0000
X:150638938:TCTA:T	acceptor_loss	1.0000
X:150638939:CTA:C	acceptor_loss	1.0000
X:150638940:TAGCC:T	acceptor_loss	1.0000
X:150638941:A:AG	acceptor_gain	1.0000
X:150638941:A:G	acceptor_loss	1.0000
X:150638942:G:GG	acceptor_gain	1.0000
X:150638942:G:GT	acceptor_loss	1.0000
X:150638942:GC:G	acceptor_gain	1.0000
X:150638942:GCC:G	acceptor_gain	1.0000
X:150638942:GCCA:G	acceptor_gain	1.0000
X:150638942:GCCAT:G	acceptor_gain	1.0000

AlphaMissense

3988 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:150641399:G:C	R220T	1.000
X:150641399:G:T	R220M	1.000
X:150641400:G:C	R220S	1.000
X:150641400:G:T	R220S	1.000
X:150645843:G:C	R280T	1.000
X:150645864:C:A	A287D	1.000
X:150649791:C:G	H315D	1.000
X:150649801:G:C	R318P	1.000
X:150649884:T:A	W346R	1.000
X:150649884:T:C	W346R	1.000
X:150657890:T:C	C375R	1.000
X:150657892:C:G	C375W	1.000
X:150657899:G:A	G378R	1.000
X:150657899:G:C	G378R	1.000
X:150657900:G:A	G378E	1.000
X:150657900:G:T	G378V	1.000
X:150657902:T:A	W379R	1.000
X:150657902:T:C	W379R	1.000
X:150657905:G:C	D380H	1.000
X:150657906:A:C	D380A	1.000
X:150657906:A:T	D380V	1.000
X:150657909:G:C	R381T	1.000
X:150657909:G:T	R381M	1.000
X:150657910:G:C	R381S	1.000
X:150657910:G:T	R381S	1.000
X:150657960:G:T	R398M	1.000
X:150657998:T:A	W411R	1.000
X:150657998:T:C	W411R	1.000
X:150663565:T:A	W534R	1.000
X:150663565:T:C	W534R	1.000

dbSNP variants (sampled 300 via entrez): RS1000012678 (X:150581154 C>G), RS1000053320 (X:150633646 A>G), RS1000125314 (X:150622699 T>C), RS1000202607 (X:150639072 A>G), RS1000258369 (X:150565662 C>A), RS1000308493 (X:150665443 C>A), RS1000320606 (X:150655227 A>C), RS1000546466 (X:150662754 A>G), RS1000773581 (X:150641628 C>A,G,T), RS1000810666 (X:150612857 G>T), RS1000944585 (X:150613411 A>G), RS1001053801 (X:150673242 C>T), RS1001059710 (X:150604011 G>T), RS1001113695 (X:150593553 G>C), RS1001191466 (X:150567383 A>G)

Disease associations

OMIM: gene MIM:300415 | disease phenotypes: MIM:310400, MIM:160150, MIM:134610, MIM:614408

GenCC curated gene-disease

Disease	Classification	Inheritance
X-linked myotubular myopathy	Definitive	X-linked

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
X-linked myotubular myopathy	Definitive	XL

Mondo (7): X-linked myotubular myopathy (MONDO:0010683), centronuclear myopathy (MONDO:0018947), neurodevelopmental disorder (MONDO:0700092), congenital fiber-type disproportion myopathy (MONDO:0009711), familial Mediterranean fever, autosomal dominant (MONDO:0007601), autosomal dominant centronuclear myopathy (MONDO:0008048), myopathy (MONDO:0005336)

Orphanet (6): X-linked centronuclear myopathy (Orphanet:596), Centronuclear myopathy (Orphanet:595), Congenital fiber-type disproportion myopathy (Orphanet:2020), Familial Mediterranean fever (Orphanet:342), Qualitative or quantitative defects of myotubularin (Orphanet:207110), Autosomal dominant centronuclear myopathy (Orphanet:169189)

HPO phenotypes

63 total (30 of 63 shown, HPO-id order):

HPO	Term
HP:0000028	Cryptorchidism
HP:0000048	Bifid scrotum
HP:0000054	Micropenis
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000256	Macrocephaly
HP:0000268	Dolichocephaly
HP:0000275	Narrow face
HP:0000276	Long face
HP:0000278	Retrognathia
HP:0000348	High forehead
HP:0000467	Neck muscle weakness
HP:0000478	Abnormality of the eye
HP:0000544	External ophthalmoplegia
HP:0000689	Dental malocclusion
HP:0000807	Glanular hypospadias
HP:0000808	Penoscrotal hypospadias
HP:0000883	Thin ribs
HP:0001166	Arachnodactyly
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001290	Generalized hypotonia
HP:0001305	Dandy-Walker malformation
HP:0001319	Neonatal hypotonia
HP:0001371	Flexion contracture
HP:0001382	Joint hypermobility
HP:0001419	X-linked recessive inheritance
HP:0001558	Decreased fetal movement
HP:0001561	Polyhydramnios
HP:0001622	Premature birth

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
potassium chromate(VI)	affects cotreatment, decreases expression	2
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	decreases expression	1
trichostatin A	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
manganese chloride	decreases expression	1
gossypol acetic acid	increases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Vorinostat	decreases expression, affects cotreatment	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	affects phosphorylation	1
Manganese	decreases expression	1
Methotrexate	increases expression	1

Cellosaurus cell lines

15 cell lines: 7 induced pluripotent stem cell, 3 finite cell line, 3 cancer cell line, 2 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A3JY	HPS2882	Induced pluripotent stem cell	Male
CVCL_A3JZ	HPS2883	Induced pluripotent stem cell	Male
CVCL_A3KA	HPS2884	Induced pluripotent stem cell	Male
CVCL_A3KB	HPS2885	Induced pluripotent stem cell	Male
CVCL_A3KC	HPS2886	Induced pluripotent stem cell	Male
CVCL_A3KD	HPS2887	Induced pluripotent stem cell	Male
CVCL_AD70	GM06813	Finite cell line	Male
CVCL_AD71	GM10680	Transformed cell line	Male
CVCL_AD85	GM23984	Transformed cell line	Male
CVCL_AD86	GM24346	Finite cell line	Male

Clinical trials (associated diseases)

268 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00120055	PHASE4	COMPLETED	Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity
NCT03633565	PHASE4	UNKNOWN	Comparative Study of Strategies for Management of Duchenne Myopathy (DM)
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT01225614	PHASE3	UNKNOWN	Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT00278564	PHASE1	TERMINATED	Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases
NCT03199469	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	A Study of AT132 in Young Children With X-Linked Myotubular Myopathy (XLMTM)
NCT04915846	PHASE1/PHASE2	TERMINATED	Tamoxifen Therapy for Myotubular Myopathy
NCT07052929	PHASE1/PHASE2	RECRUITING	Study of ASP2957 in Male Participants With X-linked Myotubular Myopathy Who Need Ventilators
NCT01840657	Not specified	COMPLETED	Myotubular Myopathy Event Study
NCT02453152	Not specified	COMPLETED	Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
NCT02704273	Not specified	COMPLETED	A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects
NCT04064307	Not specified	RECRUITING	Myotubular and Centronuclear Myopathy Patient Registry
NCT05711771	Not specified	WITHDRAWN	Medication Therapy Management (MTM) for a Medicaid Managed Care Population Within Patient-Centered Medical Homes
NCT06581146	Not specified	RECRUITING	A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
NCT04033159	PHASE1/PHASE2	TERMINATED	Early Phase Human Drug Trial to Investigate Dynamin 101 (DYN101) in Patients ≥ 16 Years With Centronuclear Myopathies
NCT04743557	PHASE1/PHASE2	WITHDRAWN	Early Phase Human Drug Trial to Investigate DYN101 in Participants 2 to 17 Years With Centronuclear Myopathies
NCT00272883	Not specified	RECRUITING	Molecular and Genetic Studies of Congenital Myopathies
NCT03351270	Not specified	COMPLETED	Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
NCT04977648	Not specified	WITHDRAWN	Natural History Study of Patients With Centronuclear Myopathies
NCT05099107	Not specified	COMPLETED	Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment
NCT05982119	Not specified	RECRUITING	Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study
NCT06157268	Not specified	RECRUITING	The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
NCT06791369	Not specified	NOT_YET_RECRUITING	The Prevalence of RYR1-related Disease
NCT07021820	Not specified	RECRUITING	Multispectral Optoacoustic Tomography for Advanced Imaging of Centronuclear Myopathy
NCT07478172	Not specified	RECRUITING	Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children