MYL11

Summary

MYL11 (myosin light chain 11, HGNC:29824) is a protein-coding gene on chromosome 16p11.2, encoding Myosin regulatory light chain 11 (Q96A32). Myosin regulatory subunit that plays an essential role to maintain muscle integrity during early development.

Predicted to enable calcium ion binding activity. Predicted to be a structural constituent of muscle. Involved in muscle contraction. Located in lysosomal membrane. Implicated in distal arthrogryposis type 1C.

Source: NCBI Gene 29895 — RefSeq curated summary.

At a glance

• Gene–disease (curated): arthrogryposis, distal, type 1C (Strong, GenCC)
• GWAS associations: 4
• Clinical variants (ClinVar): 29 total
• Phenotypes (HPO): 32
• MANE Select transcript: NM_013292

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29824
Approved symbol	MYL11
Name	myosin light chain 11
Location	16p11.2
Locus type	gene with protein product
Status	Approved
Aliases	MRLC2, HUMMLC2B
Ensembl gene	ENSG00000180209
Ensembl biotype	protein_coding
OMIM	617378
Entrez	29895

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 12 protein_coding, 1 retained_intron

ENST00000322861, ENST00000563718, ENST00000563728, ENST00000566955, ENST00000568749, ENST00000879527, ENST00000879528, ENST00000879529, ENST00000879530, ENST00000949434, ENST00000949435, ENST00000949436, ENST00000949437

RefSeq mRNA: 3 — MANE Select: NM_013292 NM_001324458, NM_001324459, NM_013292

CCDS: CCDS10677

Canonical transcript exons

ENST00000322861 — 7 exons

Exon	Start	End
ENSE00001225135	30375820	30375912
ENSE00001357541	30374802	30374860
ENSE00001650197	30376423	30376527
ENSE00001742993	30376145	30376220
ENSE00003624395	30377796	30377991
ENSE00003786081	30376620	30376698
ENSE00003788095	30377654	30377702

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 99.93.

FANTOM5 (CAGE): breadth broad, TPM avg 61.6260 / max 14005.9060, expressed in 193 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
153642	61.1961	139
153644	0.1127	45
153643	0.1017	31
153646	0.0867	34
153645	0.0637	27
153640	0.0327	19
153641	0.0325	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
biceps brachii	UBERON:0001507	99.93	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.92	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.91	gold quality
triceps brachii	UBERON:0001509	99.89	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.87	gold quality
quadriceps femoris	UBERON:0001377	99.85	gold quality
vastus lateralis	UBERON:0001379	99.85	gold quality
gastrocnemius	UBERON:0001388	99.85	gold quality
gluteal muscle	UBERON:0002000	99.83	gold quality
diaphragm	UBERON:0001103	99.82	gold quality
body of tongue	UBERON:0011876	99.82	gold quality
skeletal muscle tissue	UBERON:0001134	99.73	gold quality
deltoid	UBERON:0001476	99.06	gold quality
muscle organ	UBERON:0001630	98.54	gold quality
tibialis anterior	UBERON:0001385	98.42	gold quality
muscle of leg	UBERON:0001383	98.04	gold quality
muscle tissue	UBERON:0002385	93.84	gold quality
tongue	UBERON:0001723	91.29	gold quality
pharyngeal mucosa	UBERON:0000355	88.93	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.96	gold quality
superior surface of tongue	UBERON:0007371	83.77	gold quality
trabecular bone tissue	UBERON:0002483	81.68	gold quality
oral cavity	UBERON:0000167	80.06	gold quality
minor salivary gland	UBERON:0001830	78.41	gold quality
granulocyte	CL:0000094	77.39	gold quality
mouth mucosa	UBERON:0003729	76.38	gold quality
heart right ventricle	UBERON:0002080	75.87	gold quality
saliva-secreting gland	UBERON:0001044	74.46	gold quality
myocardium	UBERON:0002349	74.30	gold quality
left ventricle myocardium	UBERON:0006566	74.13	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-124472	yes	15278.23
E-HCAD-56	yes	11292.30
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MEF2A

Literature-anchored findings (GeneRIF, showing 2)

• A cDNA clone encoding human fast skeletal myosin regulatory light chain (HSRLC) has been isolated and characterized from a fetal muscle cDNA library. (PMID:14756420)
• Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. (PMID:32707087)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mylpfb	ENSDARG00000002589
danio_rerio	mylpfa	ENSDARG00000053254
mus_musculus	Mylpf	ENSMUSG00000030672
rattus_norvegicus	Myl11	ENSRNOG00000017645
caenorhabditis_elegans		WBGENE00003369
caenorhabditis_elegans		WBGENE00003370

Paralogs (7): MYL9 (ENSG00000101335), MYL12A (ENSG00000101608), MYL10 (ENSG00000106436), MYL7 (ENSG00000106631), MYL2 (ENSG00000111245), MYL12B (ENSG00000118680), MYL5 (ENSG00000215375)

Protein

Protein identifiers

Myosin regulatory light chain 11 — Q96A32 (reviewed: Q96A32)

Alternative names: Fast skeletal myosin light chain 2, MLC2B, Myosin light chain 11, Myosin regulatory light chain 2, skeletal muscle isoform

All UniProt accessions (4): Q96A32, H3BML9, H3BN54, H3BPK4

UniProt curated annotations — full annotation on UniProt →

Function. Myosin regulatory subunit that plays an essential role to maintain muscle integrity during early development. Plays a role in muscle contraction.

Subunit / interactions. Myosin is a hexamer of 2 heavy chains and 4 light chains.

Tissue specificity. Expressed in fetal and adult skeletal muscle.

Disease relevance. Arthrogryposis, distal, 1C (DA1C) [MIM:619110] A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA1C patients show multiple congenital contractures, scoliosis, short stature, and segmental amyoplasia. DA1C inheritance can be autosomal recessive or autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (3): NP_001311387, NP_001311388, NP_037424* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR018247	EF_Hand_1_Ca_BS	Binding_site
IPR050403	Myosin_RLC	Family

Pfam: PF13405

UniProt features (22 total): modified residue 7, sequence variant 4, binding site 4, domain 3, sequence conflict 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96A32-F1	84.43	0.60

Functional residue map

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

Ligand- & substrate-binding residues (4): 38; 40; 42; 49

Post-translational modifications (7): 15, 16, 25, 35, 75, 101, 2

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-445355	Smooth Muscle Contraction
R-HSA-397014	Muscle contraction

MSigDB gene sets: 288 (showing top): GOBP_MUSCLE_TISSUE_DEVELOPMENT, MORF_MBD4, MORF_RAB5A, GOCC_VACUOLAR_MEMBRANE, GCANCTGNY_MYOD_Q6, MORF_RAD21, HUMMERICH_BENIGN_SKIN_TUMOR_DN, HUMMERICH_MALIGNANT_SKIN_TUMOR_DN, KEGG_TIGHT_JUNCTION, MORF_PSMC2, CAGCTG_AP4_Q5, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, COUP_01, SRF_Q5_01, MORF_SKP1A

GO Biological Process (4): muscle contraction (GO:0006936), skeletal muscle tissue development (GO:0007519), actin-myosin filament sliding (GO:0033275), muscle tissue morphogenesis (GO:0060415)

GO Molecular Function (4): calcium ion binding (GO:0005509), structural constituent of muscle (GO:0008307), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), cytosol (GO:0005829), muscle myosin complex (GO:0005859), myosin complex (GO:0016459)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
muscle system process	1
striated muscle tissue development	1
skeletal muscle organ development	1
actin-mediated cell contraction	1
muscle organ morphogenesis	1
tissue morphogenesis	1
metal ion binding	1
structural molecule activity	1
binding	1
cation binding	1
intracellular anatomical structure	1
lysosome	1
lytic vacuole membrane	1
cytoplasm	1
myosin II complex	1
contractile muscle fiber	1
actin cytoskeleton	1
protein-containing complex	1

Protein interactions and networks

STRING

2122 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYL11	CNPY2	Q9Y2B0	883
MYL11	MYLIP	Q8WY64	760
MYL11	MYH3	P11055	683
MYL11	TNNC2	P02585	671
MYL11	MYH7	P12883	664
MYL11	MYL4	P11783	659
MYL11	TNNT3	P45378	636
MYL11	TNNI1	P19237	629
MYL11	MYH1	P12882	615
MYL11	TNNI2	P48788	603
MYL11	MYBPC3	Q14896	576
MYL11	MYBPC2	Q14324	570
MYL11	ACTN2	P35609	555
MYL11	XPR1	Q9UBH6	549
MYL11	PSAPL1	Q6NUJ1	544

IntAct

32 interactions, top by confidence:

A	B	Type	Score
MYL11	GFAP	psi-mi:“MI:0915”(physical association)	0.560
GRN	MYL11	psi-mi:“MI:0915”(physical association)	0.560
MYL11	PEX1	psi-mi:“MI:0915”(physical association)	0.560
MYL11	WFS1	psi-mi:“MI:0915”(physical association)	0.560
MYL11	JPH3	psi-mi:“MI:0915”(physical association)	0.560
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
LIN37	RPLP1	psi-mi:“MI:0914”(association)	0.350
ABTB2	IFT56	psi-mi:“MI:0914”(association)	0.350
MECOM	ATP2A1	psi-mi:“MI:0914”(association)	0.350
RSPH6A	ATP2A1	psi-mi:“MI:0914”(association)	0.350
TLE3	COL1A1	psi-mi:“MI:0914”(association)	0.350
TNFSF14	HAX1	psi-mi:“MI:0914”(association)	0.350
LATS1	ATP2A1	psi-mi:“MI:0914”(association)	0.350
TSPAN33	ATP2A1	psi-mi:“MI:0914”(association)	0.350
MFGE8	MYH7B	psi-mi:“MI:0914”(association)	0.350
MRPS23	MYH7B	psi-mi:“MI:0914”(association)	0.350
RSPO1	MYH7B	psi-mi:“MI:0914”(association)	0.350
TTC4	MYH7B	psi-mi:“MI:0914”(association)	0.350
PPARA	GOLIM4	psi-mi:“MI:0914”(association)	0.350
ATF1	MYO1C	psi-mi:“MI:0914”(association)	0.350

BioGRID (16): MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-RNA), MYLPF (Two-hybrid), MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-MS), MYLPF (Affinity Capture-MS)

ESM2 similar proteins: A4IF97, B7SNI3, F1SSF9, O14950, O93409, P02608, P02609, P02610, P02611, P02612, P04112, P04113, P04466, P05944, P05963, P07461, P08051, P08052, P08733, P10916, P13543, P13832, P13833, P15845, P18666, P19105, P19625, P19626, P24032, P24732, P24844, P29269, P40423, P41691, P51667, P97457, Q01449, Q02045, Q09510, Q0P571

Diamond homologs: A2WN93, A2WNH1, A2Y609, A3E3H0, A3E4D8, A3E4F9, A4IF97, A4UHC0, A8CEP3, A8I1Q0, B7SNI3, F1SSF9, O14950, O93409, O94739, P02597, P02598, P02608, P02609, P02610, P02611, P02612, P02613, P04112, P04113, P04353, P04464, P04466, P05419, P05944, P05963, P07461, P08051, P08052, P08733, P0DH95, P0DH96, P10916, P11120, P13543

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
“MYOD1/SWI/SNF complex”	“up-regulates quantity by expression”	MYLPF	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

584 predictions. Top by Δscore:

Variant	Effect	Δscore
16:30376141:CCAG:C	acceptor_loss	1.0000
16:30376142:CAGG:C	acceptor_loss	1.0000
16:30376143:A:AG	acceptor_gain	1.0000
16:30376143:AG:A	acceptor_gain	1.0000
16:30376144:G:GA	acceptor_loss	1.0000
16:30376144:G:GG	acceptor_gain	1.0000
16:30376144:GG:G	acceptor_gain	1.0000
16:30376221:G:GG	donor_gain	1.0000
16:30376411:A:AG	acceptor_gain	1.0000
16:30376412:A:G	acceptor_gain	1.0000
16:30376418:TCCA:T	acceptor_loss	1.0000
16:30376419:CCAG:C	acceptor_loss	1.0000
16:30376421:A:AG	acceptor_gain	1.0000
16:30376421:AG:A	acceptor_gain	1.0000
16:30376421:AGGCC:A	acceptor_gain	1.0000
16:30376422:G:GA	acceptor_gain	1.0000
16:30376422:GG:G	acceptor_gain	1.0000
16:30376422:GGC:G	acceptor_gain	1.0000
16:30376422:GGCC:G	acceptor_gain	1.0000
16:30376422:GGCCG:G	acceptor_gain	1.0000
16:30376523:CAAGG:C	donor_gain	1.0000
16:30376524:AAGG:A	donor_gain	1.0000
16:30376525:AGG:A	donor_gain	1.0000
16:30376526:GG:G	donor_gain	1.0000
16:30376526:GGG:G	donor_gain	1.0000
16:30376527:GG:G	donor_gain	1.0000
16:30376527:GGTG:G	donor_loss	1.0000
16:30376528:G:GG	donor_gain	1.0000
16:30376528:G:T	donor_gain	1.0000
16:30376608:T:TA	acceptor_gain	1.0000

AlphaMissense

1147 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:30376148:T:C	F34L	1.000
16:30376150:C:A	F34L	1.000
16:30376150:C:G	F34L	1.000
16:30376501:T:C	L84P	1.000
16:30375909:A:C	K31N	0.999
16:30375909:A:T	K31N	0.999
16:30376145:G:C	A33P	0.999
16:30376149:T:C	F34S	0.999
16:30376160:G:C	D38H	0.999
16:30376161:A:C	D38A	0.999
16:30376161:A:T	D38V	0.999
16:30376182:T:A	I45K	0.999
16:30376182:T:G	I45R	0.999
16:30376197:T:C	L50P	0.999
16:30376488:T:C	F80L	0.999
16:30376490:C:A	F80L	0.999
16:30376490:C:G	F80L	0.999
16:30377668:T:C	L124P	0.999
16:30377842:T:A	V151D	0.999
16:30375908:A:T	K31I	0.998
16:30376162:C:A	D38E	0.998
16:30376162:C:G	D38E	0.998
16:30376176:G:T	G43V	0.998
16:30376194:A:C	D49A	0.998
16:30376194:A:T	D49V	0.998
16:30376197:T:A	L50H	0.998
16:30376487:C:A	N79K	0.998
16:30376487:C:G	N79K	0.998
16:30376489:T:C	F80S	0.998
16:30376489:T:G	F80C	0.998

dbSNP variants (sampled 300 via entrez): RS1000240179 (16:30370832 TAA>T), RS1000385193 (16:30377214 CA>C,CAA), RS1000653113 (16:30369674 C>A,G), RS1000845733 (16:30372528 C>G), RS1001274748 (16:30372325 G>A), RS1001310302 (16:30371885 C>T), RS1001526053 (16:30378102 C>T), RS1001619879 (16:30370491 T>A,C), RS1001630955 (16:30376961 C>T), RS1001773677 (16:30369942 G>C,T), RS1001914662 (16:30377378 G>A,C,T), RS1002327358 (16:30373426 T>C), RS1003306939 (16:30371882 T>C), RS1003332189 (16:30374837 T>C), RS1004126820 (16:30373941 A>C)

Disease associations

OMIM: gene MIM:617378 | disease phenotypes: MIM:619110, MIM:108120

GenCC curated gene-disease

Disease	Classification	Inheritance
arthrogryposis, distal, type 1C	Strong	Autosomal dominant

Mondo (3): breast ductal adenocarcinoma (MONDO:0005590), arthrogryposis, distal, type 1C (MONDO:0030847), distal arthrogryposis (MONDO:0019942)

Orphanet (1): Distal arthrogryposis (Orphanet:97120)

HPO phenotypes

32 total (30 of 32 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000160	Narrow mouth
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000205	Pursed lips
HP:0000218	High palate
HP:0000233	Thin vermilion border
HP:0000278	Retrognathia
HP:0000466	Limited neck range of motion
HP:0000470	Short neck
HP:0000581	Blepharophimosis
HP:0001181	Adducted thumb
HP:0001239	Wrist flexion contracture
HP:0001762	Talipes equinovarus
HP:0001836	Camptodactyly of toe
HP:0001838	Rocker bottom foot
HP:0002650	Scoliosis
HP:0002987	Elbow flexion contracture
HP:0003044	Shoulder flexion contracture
HP:0003273	Hip contracture
HP:0003577	Congenital onset
HP:0004209	Clinodactyly of the 5th finger
HP:0004322	Short stature
HP:0004325	Decreased body weight
HP:0006070	Metacarpophalangeal joint contracture
HP:0006380	Knee flexion contracture
HP:0010880	Increased nuchal translucency
HP:0033357	Limited head rotation

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001613_17	Antineutrophil cytoplasmic antibody-associated vasculitis	3.000000e-06
GCST010703_269	Brain morphology (MOSTest)	4.000000e-13
GCST010796_3833	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_3834	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0004327	electrocardiography

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methylmercuric chloride	increases expression	1
bisphenol A	increases expression	1
sodium arsenite	affects expression	1
monomethylarsonous acid	increases expression	1
clothianidin	decreases expression	1
incobotulinumtoxinA	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	affects methylation	1
Folic Acid	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Triclosan	increases expression	1
Valproic Acid	increases methylation	1

Cellosaurus cell lines

8 cell lines: 8 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_1820	HPB-ALL	Cancer cell line	Male
CVCL_7959	HPB-MLT	Cancer cell line	Male
CVCL_E8AT	HPB-Ma	Cancer cell line	Male
CVCL_E8AU	HPB-Ma clone 10-2	Cancer cell line	Male
CVCL_E8AV	X4-MaRBLE	Cancer cell line	Male
CVCL_E8AW	R5-MaRBLE	Cancer cell line	Male
CVCL_UJ09	HPB/ADR	Cancer cell line	Male
CVCL_UJ10	HPB/VP-16	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery
NCT05137756	Not specified	COMPLETED	Mercuri Analysis Contribution on Handicap Evaluation in ArthrogypOsis, a Congenital Neuromuscular Disease