" /> Scapuloperoneal spinal muscular atrophy - CISMeF





Preferred Label : Scapuloperoneal spinal muscular atrophy;

Symbol : SPSMA;

CISMeF acronym : SPSMA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amyotrophy, neurogenic scapuloperoneal, new england type;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0008);

Prefixed ID : #181405;

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27/07/2025


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