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GENATLAS PHENOTYPE

last update : 14-12-2013

Symbol	DSMACW
Location	5q32
Name	distal spinal muscular atrophy with calf weakness
Corresponding gene	FBXO38
Main clinical features	weakness beginning in the calves and subsequent slowly progressive weakness of both distal and proximal leg and arm muscles electromyography revealed chronic neurogenic changes in all individuals with fibrillations and positive sharp waves, suggesting active denervation
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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