COL6A6

Summary

COL6A6 (collagen type VI alpha 6 chain, HGNC:27023) is a protein-coding gene on chromosome 3q22.1, encoding Collagen alpha-6(VI) chain (A6NMZ7). Collagen VI acts as a cell-binding protein.

This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases.

Source: NCBI Gene 131873 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myopathy (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 449 total — 1 likely-pathogenic
• Druggable target: yes
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• MANE Select transcript: NM_001102608

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27023
Approved symbol	COL6A6
Name	collagen type VI alpha 6 chain
Location	3q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000206384
Ensembl biotype	protein_coding
OMIM	616613
Entrez	131873

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000358511, ENST00000506143, ENST00000511332

RefSeq mRNA: 1 — MANE Select: NM_001102608 NM_001102608

CCDS: CCDS46911

Canonical transcript exons

ENST00000358511 — 37 exons

Exon	Start	End
ENSE00001292631	130566702	130567262
ENSE00001301102	130573956	130574525
ENSE00001315758	130564994	130565614
ENSE00001316756	130568047	130568604
ENSE00001325751	130570818	130571393
ENSE00001382669	130563068	130563664
ENSE00001425142	130560334	130560428
ENSE00001496655	130594281	130594343
ENSE00001496658	130593199	130593252
ENSE00001496660	130593061	130593105
ENSE00001496662	130592696	130592722
ENSE00001496663	130592541	130592612
ENSE00001496666	130591041	130591094
ENSE00001496669	130589090	130589182
ENSE00001496670	130586506	130586660
ENSE00001496672	130581990	130582068
ENSE00001550317	130581561	130581904
ENSE00001560620	130649069	130649562
ENSE00002073792	130675202	130677042
ENSE00003477648	130642987	130643023
ENSE00003484410	130621821	130621883
ENSE00003489056	130598365	130598430
ENSE00003495658	130627319	130627369
ENSE00003513286	130608902	130608964
ENSE00003526726	130610649	130610711
ENSE00003566799	130661637	130662308
ENSE00003572784	130626485	130626547
ENSE00003583160	130658676	130658772
ENSE00003584488	130641652	130641714
ENSE00003606149	130642832	130642867
ENSE00003615829	130665003	130665096
ENSE00003645801	130644991	130645002
ENSE00003662480	130599757	130599810
ENSE00003669786	130606931	130606966
ENSE00003685013	130635699	130635761
ENSE00003692040	130634590	130634625
ENSE00003935578	130517177	130517397

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 91.29.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	91.29	gold quality
parietal pleura	UBERON:0002400	88.76	gold quality
cardiac muscle of right atrium	UBERON:0003379	82.07	silver quality
visceral pleura	UBERON:0002401	81.82	gold quality
lung	UBERON:0002048	80.76	gold quality
upper lobe of left lung	UBERON:0008952	79.99	gold quality
upper lobe of lung	UBERON:0008948	79.76	gold quality
lower lobe of lung	UBERON:0008949	79.27	silver quality
skin of hip	UBERON:0001554	78.68	gold quality
pituitary gland	UBERON:0000007	78.50	gold quality
cardiac atrium	UBERON:0002081	77.67	gold quality
cartilage tissue	UBERON:0002418	77.30	gold quality
right lung	UBERON:0002167	77.26	gold quality
right atrium auricular region	UBERON:0006631	77.18	gold quality
secondary oocyte	CL:0000655	77.06	gold quality
adenohypophysis	UBERON:0002196	76.99	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.99	silver quality
mammary duct	UBERON:0001765	72.64	gold quality
epithelium of mammary gland	UBERON:0003244	72.51	gold quality
thoracic mammary gland	UBERON:0005200	71.05	gold quality
mammary gland	UBERON:0001911	70.81	gold quality
heart	UBERON:0000948	67.61	gold quality
tibialis anterior	UBERON:0001385	67.40	silver quality
right coronary artery	UBERON:0001625	67.12	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	67.01	gold quality
left ventricle myocardium	UBERON:0006566	66.81	gold quality
myocardium	UBERON:0002349	65.13	silver quality
germinal epithelium of ovary	UBERON:0001304	64.57	gold quality
heart left ventricle	UBERON:0002084	63.33	gold quality
cardiac ventricle	UBERON:0002082	62.82	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

74 targeting COL6A6, 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-12118	100.00	65.88	1270
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-4804-3P	99.65	67.78	866
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-486-5P	99.51	70.39	707
HSA-MIR-12117	99.50	67.57	868
HSA-MIR-5689	99.50	71.26	1154

Literature-anchored findings (GeneRIF, showing 9)

• The discovery of three additional collagen VI chains doubles the collagen VI family and adds a layer of complexity to collagen VI assembly and function in the extracellular matrix. (PMID:18400749)
• localization of alpha5, and to a lesser extent alpha6, is restricted to the papillary dermis, where the protein mainly colocalizes with collagen fibrils; both chains were found around blood vessels (PMID:20882040)
• collagen VI alpha 6 is an important basal lamina component involved in the regulation of epithelial cell behavior most notably as a regulator of epithelial cell-fibronectin interactions (PMID:21406227)
• The collagen VI alpha6 chain, but not the alpha5 chain, is up-regulated in dystrophic muscles. (PMID:22226732)
• Reduced collagen VI alpha6 chain expression in the skeletal muscle is associated with collagen VI-related myopathies. (PMID:24907562)
• A whole-exome sequencing approach led to identification of a deletion in RHO through detection of a new linked variant in COL6A6 in autosomal dominant retinitis pigmentosa. (PMID:26321861)
• Study identified SNPs in COL6A6 associated with atopic dermatitis suggesting that COL6A6 variants may constitute candidate risk factors for early-onset atopic dermatitis. (PMID:28125976)
• Whole-genome sequencing reveals possible role of deleterious mutation of COL6A6 in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population. (PMID:30577800)
• New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family. (PMID:35333290)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	col6a4a	ENSDARG00000079752
danio_rerio	col6a4b	ENSDARG00000112419
mus_musculus	Col6a6	ENSMUSG00000043719
rattus_norvegicus	Col6a6	ENSRNOG00000023007

Paralogs (12): COCH (ENSG00000100473), COL12A1 (ENSG00000111799), MATN4 (ENSG00000124159), MATN3 (ENSG00000132031), MATN2 (ENSG00000132561), MATN1 (ENSG00000162510), COL6A3 (ENSG00000163359), VWA2 (ENSG00000165816), COL6A5 (ENSG00000172752), VWA1 (ENSG00000179403), COL14A1 (ENSG00000187955), VIT (ENSG00000205221)

Protein

Protein identifiers

Collagen alpha-6(VI) chain — A6NMZ7 (reviewed: A6NMZ7)

All UniProt accessions (3): A6NMZ7, H0Y940, H0YA33

UniProt curated annotations — full annotation on UniProt →

Function. Collagen VI acts as a cell-binding protein.

Subunit / interactions. Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Post-translational modifications. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.

Similarity. Belongs to the type VI collagen family.

Isoforms (2)

UniProt ID	Names	Canonical?
A6NMZ7-1	1	yes
A6NMZ7-2	2

RefSeq proteins (1): NP_001096078* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002035	VWF_A	Domain
IPR008160	Collagen	Repeat
IPR036465	vWFA_dom_sf	Homologous_superfamily
IPR050525	ECM_Assembly_Org	Family

Pfam: PF00092, PF01391

UniProt features (36 total): domain 9, glycosylation site 8, sequence variant 6, region of interest 4, compositionally biased region 3, splice variant 2, signal peptide 1, chain 1, short sequence motif 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NMZ7-F1	75.61	0.27

Functional residue map

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

Glycosylation sites (8): 198, 275, 288, 347, 520, 930, 988, 1290

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-1442490	Collagen degradation
R-HSA-1650814	Collagen biosynthesis and modifying enzymes
R-HSA-186797	Signaling by PDGF
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures
R-HSA-216083	Integrin cell surface interactions
R-HSA-3000178	ECM proteoglycans
R-HSA-419037	NCAM1 interactions
R-HSA-8948216	Collagen chain trimerization

MSigDB gene sets: 77 (showing top): GOCC_COLLAGEN_TRIMER, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, chr3q22, REACTOME_INTEGRIN_CELL_SURFACE_INTERACTIONS, GOCC_COMPLEX_OF_COLLAGEN_TRIMERS, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, REACTOME_SIGNALING_BY_PDGF, GOCC_SUPRAMOLECULAR_COMPLEX, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT_CONFERRING_TENSILE_STRENGTH, REACTOME_COLLAGEN_DEGRADATION, REACTOME_COLLAGEN_BIOSYNTHESIS_AND_MODIFYING_ENZYMES, REACTOME_ASSEMBLY_OF_COLLAGEN_FIBRILS_AND_OTHER_MULTIMERIC_STRUCTURES, REACTOME_ECM_PROTEOGLYCANS, REACTOME_COLLAGEN_CHAIN_TRIMERIZATION

GO Biological Process (2): cell adhesion (GO:0007155), extracellular matrix organization (GO:0030198)

GO Molecular Function (1): extracellular matrix structural constituent conferring tensile strength (GO:0030020)

GO Cellular Component (4): extracellular region (GO:0005576), collagen type VI trimer (GO:0005589), extracellular matrix (GO:0031012), collagen trimer (GO:0005581)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Collagen formation	2
Extracellular matrix organization	2
Degradation of the extracellular matrix	1
Signaling by Receptor Tyrosine Kinases	1
NCAM signaling for neurite out-growth	1
Collagen biosynthesis and modifying enzymes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
extracellular structure organization	1
external encapsulating structure organization	1
extracellular matrix structural constituent	1
cellular anatomical structure	1
collagen beaded filament	1
von-Willerbrand-factor-A-domain-rich collagen trimer	1
extracellular protein-containing complex	1
external encapsulating structure	1
protein-containing complex	1

Protein interactions and networks

STRING

1188 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
COL6A6	P4HA3	Q7Z4N8	612
COL6A6	FCN3	O75636	523
COL6A6	COL6A2	P12110	515
COL6A6	CCBE1	Q6UXH8	512
COL6A6	CTHRC1	Q96CG8	508
COL6A6	COL15A1	P39059	483
COL6A6	FCN2	Q15485	456
COL6A6	COLEC10	Q9Y6Z7	419
COL6A6	ITGA9	Q13797	403
COL6A6	HMMR	O75330	394
COL6A6	LAMA4	Q16363	387
COL6A6	LAMC3	Q9Y6N6	385
COL6A6	C1QL4	Q86Z23	353
COL6A6	LAMA2	P24043	353
COL6A6	ITGA8	P53708	348

IntAct

5 interactions, top by confidence:

A	B	Type	Score
COL6A6	ALDH1B1	psi-mi:“MI:0915”(physical association)	0.400
COL6A6	SSR3	psi-mi:“MI:0915”(physical association)	0.400
		psi-mi:“MI:0914”(association)	0.350

BioGRID (23): ALDH1B1 (Proximity Label-MS), SSR3 (Proximity Label-MS), COL6A6 (Affinity Capture-MS), PGK1 (Cross-Linking-MS (XL-MS)), RPL27 (Cross-Linking-MS (XL-MS)), COL6A6 (Cross-Linking-MS (XL-MS)), COL6A6 (Cross-Linking-MS (XL-MS)), COL6A6 (Cross-Linking-MS (XL-MS)), EEA1 (Cross-Linking-MS (XL-MS)), NEURL4 (Cross-Linking-MS (XL-MS)), COL6A6 (Proximity Label-MS), COL6A6 (Proximity Label-MS), COL6A6 (Proximity Label-MS), COL6A6 (Proximity Label-MS), COL6A6 (Proximity Label-MS)

ESM2 similar proteins: A2AX52, A6H584, A6NMZ7, A6X935, A8TX70, E1BMV3, E7FF10, O00339, O02668, O08746, O55123, O89029, P05099, P06681, P12111, P15989, P19823, P19827, P21180, P21941, P51942, P79263, P97278, P97279, Q0IIH7, Q0V8T0, Q0V8T5, Q0V8T6, Q0V8T7, Q0VCM5, Q14624, Q21540, Q29052, Q3SYW2, Q3T052, Q5GFL6, Q61702, Q61703, Q6DCQ6, Q70UZ7

Diamond homologs: A2AX52, A6H584, A6NMZ7, A6QLN9, A8TX70, E7FF10, O00339, O08746, O42401, O75578, O89029, P05099, P05555, P11215, P12111, P15989, P20701, P20702, P34576, P51942, P61625, Q02388, Q13349, Q21281, Q21540, Q28902, Q3V0T4, Q63870, Q642A6, Q6PCB0, Q6UXI7, Q8C6K9, Q8NFW1, Q8R2Z5, Q90615, Q91145, Q923P0, Q95LI2, Q96P44, Q9P218

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
COL6A6	up-regulates	ECM_synthesis

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — PAAD.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	361
Likely benign	42
Benign	21

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
444617	NM_001102608.3(COL6A6):c.3971-2A>G	Likely pathogenic

SpliceAI

5915 predictions. Top by Δscore:

Variant	Effect	Δscore
3:130563616:G:GT	donor_gain	1.0000
3:130566698:TTAG:T	acceptor_loss	1.0000
3:130566700:A:AC	acceptor_loss	1.0000
3:130566700:A:AG	acceptor_gain	1.0000
3:130566701:G:GG	acceptor_gain	1.0000
3:130566701:GGTT:G	acceptor_gain	1.0000
3:130568045:A:AG	acceptor_gain	1.0000
3:130568046:G:GG	acceptor_gain	1.0000
3:130570816:A:AG	acceptor_gain	1.0000
3:130570817:G:GG	acceptor_gain	1.0000
3:130570817:GAAT:G	acceptor_gain	1.0000
3:130571389:AGTAG:A	donor_loss	1.0000
3:130571390:GTAG:G	donor_gain	1.0000
3:130571393:GGTA:G	donor_loss	1.0000
3:130571394:G:C	donor_loss	1.0000
3:130571395:T:G	donor_loss	1.0000
3:130573951:TGTA:T	acceptor_loss	1.0000
3:130573954:A:AG	acceptor_gain	1.0000
3:130573954:AGAT:A	acceptor_loss	1.0000
3:130573955:G:GG	acceptor_gain	1.0000
3:130573955:GATT:G	acceptor_gain	1.0000
3:130573992:T:TA	acceptor_gain	1.0000
3:130574522:AGCA:A	donor_gain	1.0000
3:130574523:GCA:G	donor_gain	1.0000
3:130574523:GCAG:G	donor_gain	1.0000
3:130574524:CA:C	donor_gain	1.0000
3:130574526:G:GG	donor_gain	1.0000
3:130581559:A:AG	acceptor_gain	1.0000
3:130581560:G:GA	acceptor_gain	1.0000
3:130581560:GA:G	acceptor_gain	1.0000

AlphaMissense

14932 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:130568088:A:C	S629R	0.996
3:130568090:T:A	S629R	0.996
3:130568090:T:G	S629R	0.996
3:130568199:T:C	F666L	0.995
3:130568201:C:A	F666L	0.995
3:130568201:C:G	F666L	0.995
3:130568317:T:C	L705P	0.995
3:130568080:T:C	L626P	0.994
3:130568380:T:C	L726P	0.994
3:130568497:T:C	L765P	0.993
3:130661832:G:C	R2009P	0.993
3:130568085:G:C	D628H	0.992
3:130568092:C:T	S630F	0.992
3:130568202:A:C	S667R	0.992
3:130568204:C:A	S667R	0.992
3:130568204:C:G	S667R	0.992
3:130568386:T:C	L728P	0.992
3:130568508:A:C	S769R	0.992
3:130568510:T:A	S769R	0.992
3:130568510:T:G	S769R	0.992
3:130574295:T:C	L1106P	0.992
3:130574108:T:C	F1044L	0.990
3:130574110:T:A	F1044L	0.990
3:130574110:T:G	F1044L	0.990
3:130568086:A:T	D628V	0.989
3:130568091:T:C	S630P	0.989
3:130568440:G:C	R746P	0.989
3:130571283:T:C	L956P	0.989
3:130662206:A:C	S2134R	0.989
3:130662208:C:A	S2134R	0.989

dbSNP variants (sampled 300 via entrez): RS1000032636 (3:130548094 A>G), RS1000100593 (3:130515376 A>G), RS1000128798 (3:130657127 C>T), RS1000130027 (3:130656185 G>C), RS1000134638 (3:130546101 CA>C), RS1000180246 (3:130596265 T>C), RS1000233735 (3:130612697 G>A), RS1000239842 (3:130600768 C>T), RS1000256921 (3:130550839 A>G), RS1000258584 (3:130594815 A>C), RS1000264516 (3:130551599 A>G), RS1000306346 (3:130558064 T>C), RS1000375133 (3:130595141 C>T), RS1000384604 (3:130515065 C>T), RS1000397091 (3:130655790 T>G)

Disease associations

OMIM: gene MIM:616613 | disease phenotypes: MIM:117000

GenCC curated gene-disease

Disease	Classification	Inheritance
myopathy	Limited	Autosomal recessive
congenital myopathy	Limited	Autosomal recessive

Mondo (2): congenital myopathy (MONDO:0019952), myopathy (MONDO:0005336)

Orphanet (1): Congenital myopathy (Orphanet:97245)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004748_85	Lung cancer	8.000000e-06
GCST009090_6	Thoracic aortic calcification levels	7.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010273	thoracic aortic calcification measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2364188 (PROTEIN COMPLEX GROUP)

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases methylation	6
Aflatoxin B1	decreases methylation, increases methylation	2
aristolochic acid I	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
belinostat	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Benzo(a)pyrene	increases methylation	1
Nickel	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	increases expression	1
Tretinoin	decreases expression	1
Antirheumatic Agents	increases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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)
NCT01225614	PHASE3	UNKNOWN	Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive
NCT00278564	PHASE1	TERMINATED	Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT02124070	PHASE1/PHASE2	WITHDRAWN	Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis
NCT00549029	Not specified	UNKNOWN	The Association of Genetic Polymorphisms With Statin-Induced Myopathy.
NCT00767130	Not specified	UNKNOWN	DNA Diagnostic System for Statin Safety and Efficacy
NCT00922428	Not specified	COMPLETED	PASCOE-Agil HOM-Injektopas in the Treatment of Rheumatic Disorders
NCT00937001	Not specified	ACTIVE_NOT_RECRUITING	Critical Illness Myopathy as a Cause of Debilitating ICU-Acquired Weakness
NCT00990834	Not specified	WITHDRAWN	Muscle Characteristics Associated With Statin Therapy
NCT01022450	Not specified	UNKNOWN	Study of the Causes of the Breakdown of Muscle Fibers in Hospitalized Patients
NCT01040650	Not specified	TERMINATED	Metabolic Features of Post-Myopathy Patients Associated With Statin Treatment
NCT01047163	Not specified	COMPLETED	Maintenance of Muscle Mass in Older People: the Negative Impact of Statin Therapy
NCT01270269	Not specified	COMPLETED	ACT-ICU Study: Activity and Cognitive Therapy in the Intensive Care Unit
NCT01353430	Not specified	RECRUITING	Characterization of Inclusion Body Myopathy Associated With Paget’s Disease of Bone and Frontotemporal Dementia (IBMPFD)
NCT01395563	Not specified	WITHDRAWN	Strength Training on Pancreatic Cancer
NCT01530841	Not specified	COMPLETED	Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy
NCT01547767	Not specified	COMPLETED	Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
NCT01702987	Not specified	COMPLETED	Evaluation of Ubiquinol on Mitochondrial Oxidative Capacity in Statin Patients Using 31PMRS
NCT01790178	Not specified	COMPLETED	Ultrasound in Muscle Biopsy
NCT02011282	Not specified	COMPLETED	Electro-Neuro-Muscular Stimulation in ICU
NCT02104921	Not specified	COMPLETED	Innovative Ultrasound Technology in Neuromuscular Disease
NCT02118805	Not specified	COMPLETED	Innovative Measures of Speech and Swallowing Dysfunction in Neurological Disorders
NCT02235220	Not specified	UNKNOWN	Reduction of Masticatory Muscle Activity by Restoring Canine Guidance
NCT02247895	Not specified	TERMINATED	Treatment of Muscle Weakness in Critically Ill Patients
NCT02315339	Not specified	TERMINATED	European Home Mechanical Ventilation Registry
NCT02442986	Not specified	COMPLETED	Neurological Outcome in Surgical and Non-surgical Septic Patients
NCT02706314	Not specified	COMPLETED	Impact of Human Blood Serum From Critically Ill Patients on Human Colon Neuronal Networks.
NCT02765828	Not specified	COMPLETED	Identification of Tongue Involvement in Late-Onset Pompe Disease
NCT03042286	Not specified	UNKNOWN	SAPhIRE Statin Adverse Drug Reaction
NCT03141749	Not specified	COMPLETED	Venous Thromboembolism in DM1
NCT03660969	Not specified	ACTIVE_NOT_RECRUITING	Reliability of Cardiac Troponins for the Diagnosis of Myocardial Infarction in the Presence of Skeletal Muscle Disease
NCT03749538	Not specified	RECRUITING	Acute Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies
NCT03751644	Not specified	COMPLETED	Peripherical Neuromuscular Electrical Stimulation in Systemic Autoimmune Myopathies
NCT03998540	Not specified	UNKNOWN	Improvement of DIAgnostic and Phenotype-genotype Correlation Studies in Patients With MYOpathy Suspected of TITinopathy
NCT04678635	Not specified	RECRUITING	Chronic Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies
NCT04881214	Not specified	UNKNOWN	COVID-19 Pneumonia: Pulmonary Physiology, Health-related Quality of Life and Benefit of a Rehabilitation Program
NCT04941079	Not specified	UNKNOWN	Safety and Efficacy of Inactivated SARS-CoV-2 Vaccine in Immune-related Myopathy (Myasthenia Gravis and Inflammatory Myopathy) Patients ：a Prospective Observational Study
NCT05599568	Not specified	RECRUITING	Repeated Bout Effect i Neuromuscular Diseases