Scapuloperoneal Spinal Muscular Atrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SPSMA MCID: SCP002 MIFTS: 29	Scapuloperoneal Spinal Muscular Atrophy (SPSMA) Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Scapuloperoneal Spinal Muscular Atrophy

MalaCards integrated aliases for Scapuloperoneal Spinal Muscular Atrophy:

Name: Scapuloperoneal Spinal Muscular Atrophy ⁵⁷ ⁵³ ⁵⁹ ⁷⁵ ³⁷ ²⁹ ¹³ ⁶

Spsma ⁵⁷ ⁵³ ⁵⁹ ⁷⁵

Amyotrophy, Neurogenic Scapuloperoneal, New England Type ⁵⁷ ⁵³

Spinal Muscular Atrophy, Scapuloperoneal ⁵⁷ ²⁹

Neurogenic Scapuloperoneal Amyotrophy, New England Type ⁵⁹

Amyotrophy Neurogenic Scapuloperoneal New England Type ⁷⁵

Scapuloperoneal Form of Spinal Muscular Atrophy ⁷³

Atrophy, Muscular, Spinal, Scapuloperoneal ⁴⁰

Scapuloperoneal Neuronopathy ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

scapuloperoneal spinal muscular atrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
nonprogressive or slowly progressive
onset at birth or in infancy

HPO:

³²

scapuloperoneal spinal muscular atrophy:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance

spinal muscular atrophy, scapuloperoneal:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Spinal muscular atrophy and related syndromes

Other inherited spinal muscular atrophy

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 181405 271220

Orphanet ⁵⁹ ORPHA431255

UMLS via Orphanet ⁷⁴ C0751335

ICD10 via Orphanet ³⁴ G12.1

MedGen ⁴² C0751335

MeSH ⁴⁴ D009134

KEGG ³⁷ H00524

SNOMED-CT via HPO ⁶⁹ 263681008 258211005 270476009 more

UMLS ⁷³ C0751335

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Summaries for Scapuloperoneal Spinal Muscular Atrophy

UniProtKB/Swiss-Prot : ⁷⁵ Scapuloperoneal spinal muscular atrophy: A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy.

MalaCards based summary : Scapuloperoneal Spinal Muscular Atrophy, also known as spsma, is related to spinal muscular atrophy and muscular atrophy, and has symptoms including torticollis and facial paresis. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Related phenotypes are clinodactyly and respiratory insufficiency

Description from OMIM: 181405 271220

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Related Diseases for Scapuloperoneal Spinal Muscular Atrophy

Diseases related to Scapuloperoneal Spinal Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	spinal muscular atrophy	10.5
2	muscular atrophy	10.5
3	brachyolmia	9.7	TRPV4 MIR4497

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Symptoms & Phenotypes for Scapuloperoneal Spinal Muscular Atrophy

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Hands:
clinodactyly
small hands

Skeletal Pelvis:
hip dysplasia

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
peripheral motor neuropathy
decreased distal sensation (less common)

Muscle Soft Tissue:
peroneal muscle atrophy
gowers sign
scapular muscle atrophy
amyotrophy, neurogenic
scapular muscle weakness
more

Head And Neck Eyes:
abducens palsy

Skeletal Feet:
metatarsus varus
club feet

Respiratory:
respiratory insufficiency in infancy
respiratory stridor in infancy

Chest External Features:
rounded shoulders due to muscle atrophy

Voice:
hoarse voice due to laryngeal palsy

Skeletal Spine:
scoliosis
kyphosis
hyperlordosis

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging
laterally placed scapulae

Head And Neck Neck:
torticollis
weak neck flexion

Chest Diaphragm:
diaphragmatic weakness

Neurologic Central Nervous System:
delayed motor development
wide-based gait

Head And Neck Face:
facial weakness

Respiratory Larynx:
laryngeal palsy

Skeletal Limbs:
asymmetric limb length (less common)

Clinical features from OMIM:

181405 271220

Human phenotypes related to Scapuloperoneal Spinal Muscular Atrophy:

³² (show all 31)

#	Description	HPO Frequency	HPO Source Accession
1	clinodactyly ³²		HP:0030084
2	respiratory insufficiency ³²		HP:0002093
3	scoliosis ³²		HP:0002650
4	kyphosis ³²		HP:0002808
5	hyperlordosis ³²		HP:0003307
6	facial palsy ³²		HP:0010628
7	hip dysplasia ³²		HP:0001385
8	metatarsus adductus ³²		HP:0001840
9	scapular winging ³²		HP:0003691
10	motor delay ³²		HP:0001270
11	talipes equinovarus ³²		HP:0001762
12	small hand ³²		HP:0200055
13	areflexia ³²		HP:0001284
14	hyporeflexia ³²		HP:0001265
15	torticollis ³²		HP:0000473
16	peroneal muscle atrophy ³²		HP:0009049
17	gowers sign ³²		HP:0003391
18	stridor ³²		HP:0010307
19	muscle fiber splitting ³²		HP:0003555
20	scapular muscle atrophy ³²		HP:0009060
21	diaphragmatic weakness ³²		HP:0009113
22	distal sensory impairment ³²	occasional (7.5%)	HP:0002936
23	broad-based gait ³²		HP:0002136
24	progressive distal muscular atrophy ³²		HP:0008955
25	abducens palsy ³²		HP:0011349
26	motor polyneuropathy ³²		HP:0007178
27	progressive distal muscle weakness ³²		HP:0009063
28	peroneal muscle weakness ³²		HP:0011727
29	spinal muscular atrophy ³²		HP:0007269
30	amyoplasia ³²		HP:0003634
31	scapuloperoneal amyotrophy ³²		HP:0003697

UMLS symptoms related to Scapuloperoneal Spinal Muscular Atrophy:

torticollis, facial paresis

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Drugs & Therapeutics for Scapuloperoneal Spinal Muscular Atrophy

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Spinal Muscular Atrophy

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Genetic Tests for Scapuloperoneal Spinal Muscular Atrophy

Genetic tests related to Scapuloperoneal Spinal Muscular Atrophy:

#	Genetic test	Affiliating Genes
1	Scapuloperoneal Spinal Muscular Atrophy ²⁹	TRPV4
2	Spinal Muscular Atrophy, Scapuloperoneal ²⁹

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Anatomical Context for Scapuloperoneal Spinal Muscular Atrophy

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Publications for Scapuloperoneal Spinal Muscular Atrophy

Articles related to Scapuloperoneal Spinal Muscular Atrophy:

#	Title	Authors	Year
1	TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature. ( 26948711 )	Biasini F....Rodolico C.	2016
2	Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. ( 20037587 )	Deng H.X....Siddique T.	2010
3	Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation. ( 9187660 )	Isozumi K....Siddique T.	1997
4	Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. ( 8872481 )	Isozumi K....Siddique T.	1996
5	Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child. ( 7693085 )	Malci? I...Hlavka V	1993

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Genes for Scapuloperoneal Spinal Muscular Atrophy

Genes related to Scapuloperoneal Spinal Muscular Atrophy (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TRPV4	Transient Receptor Potential Cation Channel Subfamily V Member 4	Protein Coding	1690.66	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	20037588 1520078 20037587 (more) 20037586 20104247 17761659 24830047 15668982 8179305 21115951 22065612 21336783
2	MIR4497	MicroRNA 4497	RNA Gene	8.17	GeneCards inferred via : Variants (show sections)

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Variations for Scapuloperoneal Spinal Muscular Atrophy

UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	TRPV4	p.Arg316Cys	VAR_063530	rs267607145

ClinVar genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

⁶ (show top 50) (show all 138)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TRPV4	NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)	single nucleotide variant	Pathogenic	rs267607143	GRCh37	Chromosome 12, 110236628: 110236628
2	TRPV4	NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)	single nucleotide variant	Pathogenic	rs267607143	GRCh38	Chromosome 12, 109798823: 109798823
3	TRPV4	NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)	single nucleotide variant	Pathogenic	rs267607145	GRCh37	Chromosome 12, 110236625: 110236625
4	TRPV4	NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)	single nucleotide variant	Pathogenic	rs267607145	GRCh38	Chromosome 12, 109798820: 109798820
5	TRPV4	NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)	single nucleotide variant	Pathogenic	rs267607146	GRCh37	Chromosome 12, 110238471: 110238471
6	TRPV4	NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)	single nucleotide variant	Pathogenic	rs267607146	GRCh38	Chromosome 12, 109800666: 109800666
7	TRPV4	NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser)	single nucleotide variant	Benign	rs3742030	GRCh37	Chromosome 12, 110252547: 110252547
8	TRPV4	NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser)	single nucleotide variant	Benign	rs3742030	GRCh38	Chromosome 12, 109814742: 109814742
9	TRPV4	NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs187864727	GRCh37	Chromosome 12, 110240859: 110240859
10	TRPV4	NM_021625.4(TRPV4): c.649G> T (p.Ala217Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs187864727	GRCh38	Chromosome 12, 109803054: 109803054
11	TRPV4	NM_021625.4(TRPV4): c.789T> C (p.Asp263=)	single nucleotide variant	Benign	rs3742034	GRCh37	Chromosome 12, 110238487: 110238487
12	TRPV4	NM_021625.4(TRPV4): c.789T> C (p.Asp263=)	single nucleotide variant	Benign	rs3742034	GRCh38	Chromosome 12, 109800682: 109800682
13	TRPV4	NM_021625.4(TRPV4): c.795C> T (p.His265=)	single nucleotide variant	Benign	rs1344554	GRCh37	Chromosome 12, 110238481: 110238481
14	TRPV4	NM_021625.4(TRPV4): c.795C> T (p.His265=)	single nucleotide variant	Benign	rs1344554	GRCh38	Chromosome 12, 109800676: 109800676
15	TRPV4	NM_021625.4(TRPV4): c.1153-10C> T	single nucleotide variant	Benign/Likely benign	rs149541389	GRCh37	Chromosome 12, 110234519: 110234519
16	TRPV4	NM_021625.4(TRPV4): c.1153-10C> T	single nucleotide variant	Benign/Likely benign	rs149541389	GRCh38	Chromosome 12, 109796714: 109796714
17	TRPV4	NM_021625.4(TRPV4): c.2034C> T (p.Ile678=)	single nucleotide variant	Benign	rs3742037	GRCh37	Chromosome 12, 110226379: 110226379
18	TRPV4	NM_021625.4(TRPV4): c.2034C> T (p.Ile678=)	single nucleotide variant	Benign	rs3742037	GRCh38	Chromosome 12, 109788574: 109788574
19	TRPV4	NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys)	single nucleotide variant	Benign/Likely benign	rs55728855	GRCh37	Chromosome 12, 110221524: 110221524
20	TRPV4	NM_021625.4(TRPV4): c.2518G> A (p.Glu840Lys)	single nucleotide variant	Benign/Likely benign	rs55728855	GRCh38	Chromosome 12, 109783719: 109783719
21	TRPV4	NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile)	single nucleotide variant	Benign/Likely benign	rs56177950	GRCh37	Chromosome 12, 110230597: 110230597
22	TRPV4	NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile)	single nucleotide variant	Benign/Likely benign	rs56177950	GRCh38	Chromosome 12, 109792792: 109792792
23	TRPV4	NM_021625.4(TRPV4): c.33G> T (p.Gly11=)	single nucleotide variant	Benign/Likely benign	rs56092423	GRCh37	Chromosome 12, 110252569: 110252569
24	TRPV4	NM_021625.4(TRPV4): c.33G> T (p.Gly11=)	single nucleotide variant	Benign/Likely benign	rs56092423	GRCh38	Chromosome 12, 109814764: 109814764
25	TRPV4	NM_021625.4(TRPV4): c.854-4G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs371733585	GRCh37	Chromosome 12, 110236721: 110236721
26	TRPV4	NM_021625.4(TRPV4): c.854-4G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs371733585	GRCh38	Chromosome 12, 109798916: 109798916
27	TRPV4	NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr)	single nucleotide variant	Uncertain significance	rs138396764	GRCh38	Chromosome 12, 109783632: 109783632
28	TRPV4	NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr)	single nucleotide variant	Uncertain significance	rs138396764	GRCh37	Chromosome 12, 110221437: 110221437
29	TRPV4	NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser)	single nucleotide variant	Benign/Likely benign	rs116035946	GRCh38	Chromosome 12, 109783739: 109783739
30	TRPV4	NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser)	single nucleotide variant	Benign/Likely benign	rs116035946	GRCh37	Chromosome 12, 110221544: 110221544
31	TRPV4	NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile)	single nucleotide variant	Likely benign	rs148171058	GRCh38	Chromosome 12, 109786798: 109786798
32	TRPV4	NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile)	single nucleotide variant	Likely benign	rs148171058	GRCh37	Chromosome 12, 110224603: 110224603
33	TRPV4	NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val)	single nucleotide variant	Likely benign	rs115976458	GRCh38	Chromosome 12, 109793968: 109793968
34	TRPV4	NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val)	single nucleotide variant	Likely benign	rs115976458	GRCh37	Chromosome 12, 110231773: 110231773
35	TRPV4	NM_021625.4(TRPV4): c.1308C> T (p.Ile436=)	single nucleotide variant	Benign/Likely benign	rs141244183	GRCh38	Chromosome 12, 109796549: 109796549
36	TRPV4	NM_021625.4(TRPV4): c.1308C> T (p.Ile436=)	single nucleotide variant	Benign/Likely benign	rs141244183	GRCh37	Chromosome 12, 110234354: 110234354
37	TRPV4	NM_021625.4(TRPV4): c.769C> G (p.Leu257Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56217500	GRCh38	Chromosome 12, 109800702: 109800702
38	TRPV4	NM_021625.4(TRPV4): c.769C> G (p.Leu257Val)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56217500	GRCh37	Chromosome 12, 110238507: 110238507
39	TRPV4	NM_021625.4(TRPV4): c.712+10C> T	single nucleotide variant	Benign/Likely benign	rs115657305	GRCh38	Chromosome 12, 109802981: 109802981
40	TRPV4	NM_021625.4(TRPV4): c.712+10C> T	single nucleotide variant	Benign/Likely benign	rs115657305	GRCh37	Chromosome 12, 110240786: 110240786
41	TRPV4	NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu)	single nucleotide variant	Benign/Likely benign	rs115861965	GRCh37	Chromosome 12, 110252450: 110252450
42	TRPV4	NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu)	single nucleotide variant	Benign/Likely benign	rs115861965	GRCh38	Chromosome 12, 109814645: 109814645
43	TRPV4	NM_021625.4(TRPV4): c.2433G> C (p.Ser811=)	single nucleotide variant	Benign/Likely benign	rs34071623	GRCh38	Chromosome 12, 109784341: 109784341
44	TRPV4	NM_021625.4(TRPV4): c.2433G> C (p.Ser811=)	single nucleotide variant	Benign/Likely benign	rs34071623	GRCh37	Chromosome 12, 110222146: 110222146
45	TRPV4	NM_021625.4(TRPV4): c.810G> A (p.Gly270=)	single nucleotide variant	Benign/Likely benign	rs147558344	GRCh38	Chromosome 12, 109800661: 109800661
46	TRPV4	NM_021625.4(TRPV4): c.810G> A (p.Gly270=)	single nucleotide variant	Benign/Likely benign	rs147558344	GRCh37	Chromosome 12, 110238466: 110238466
47	TRPV4	NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met)	single nucleotide variant	Benign/Likely benign	rs185933892	GRCh38	Chromosome 12, 109792763: 109792763
48	TRPV4	NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met)	single nucleotide variant	Benign/Likely benign	rs185933892	GRCh37	Chromosome 12, 110230568: 110230568
49	TRPV4	NM_021625.4(TRPV4): c.1341C> T (p.His447=)	single nucleotide variant	Benign/Likely benign	rs57316123	GRCh37	Chromosome 12, 110232284: 110232284
50	TRPV4	NM_021625.4(TRPV4): c.1341C> T (p.His447=)	single nucleotide variant	Benign/Likely benign	rs57316123	GRCh38	Chromosome 12, 109794479: 109794479

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Expression for Scapuloperoneal Spinal Muscular Atrophy

Search GEO for disease gene expression data for Scapuloperoneal Spinal Muscular Atrophy.

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Pathways for Scapuloperoneal Spinal Muscular Atrophy

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GO Terms for Scapuloperoneal Spinal Muscular Atrophy

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Sources for Scapuloperoneal Spinal Muscular Atrophy

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Scapuloperoneal Spinal Muscular Atrophy (SPSMA)

Aliases & Classifications for Scapuloperoneal Spinal Muscular Atrophy

MalaCards integrated aliases for Scapuloperoneal Spinal Muscular Atrophy:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Scapuloperoneal Spinal Muscular Atrophy

Related Diseases for Scapuloperoneal Spinal Muscular Atrophy

Diseases related to Scapuloperoneal Spinal Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Scapuloperoneal Spinal Muscular Atrophy

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Scapuloperoneal Spinal Muscular Atrophy:

UMLS symptoms related to Scapuloperoneal Spinal Muscular Atrophy:

Drugs & Therapeutics for Scapuloperoneal Spinal Muscular Atrophy

Genetic Tests for Scapuloperoneal Spinal Muscular Atrophy

Genetic tests related to Scapuloperoneal Spinal Muscular Atrophy:

Anatomical Context for Scapuloperoneal Spinal Muscular Atrophy

Publications for Scapuloperoneal Spinal Muscular Atrophy

Articles related to Scapuloperoneal Spinal Muscular Atrophy:

Genes for Scapuloperoneal Spinal Muscular Atrophy

Genes related to Scapuloperoneal Spinal Muscular Atrophy (1 elite genes):

Variations for Scapuloperoneal Spinal Muscular Atrophy

UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

ClinVar genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

Expression for Scapuloperoneal Spinal Muscular Atrophy

Pathways for Scapuloperoneal Spinal Muscular Atrophy

GO Terms for Scapuloperoneal Spinal Muscular Atrophy

Sources for Scapuloperoneal Spinal Muscular Atrophy