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GENATLAS PHENOTYPE

last update : 06-09-2018

Symbol	SCPNK
Location	2q35
Name	scapuloperoneal syndrome, neurogenic, Kaeser type
Corresponding gene	DES
Main clinical features	peroneal atrophy is accompanied by bilateral foot drop and talipes equinovarus weakness and atrophy started in the legs and spread to the thighs and pelvic girdle, resulting in paraplegia facial weakness, dysphagia, and gynecomastia were frequent histologic and immunohistochemical examination of muscle biopsy specimens revealed a wide spectrum of findings ranging from near normal or unspecific pathology to typical, mild fibrillar changes with accumulation of desmin
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)