scapuloperoneal spinal muscular atrophy
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scapuloperoneal spinal muscular atrophy
A clinically variable neuromuscular disorder (OMIM:181405) characterised by neurogenic scapuloperoneal (girdle) amyotrophy, laryngeal paralysis, congenital absence of muscles, progressive girdle atrophy and progressive distal weakness and amyotrophy.Molecular pathology
Caused by defects in TRPV4, which encodes a nonselective cation channel thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure.
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