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GENATLAS PHENOTYPE

last update : 05-03-2010

Symbol	MMD1
Location	2p13.2
Name	Miyoshi myopathy 1
Other name(s)	distal muscular dystrophy, early adult type II
Corresponding gene	DYSF
Other symbol(s)	EDMD3
Main clinical features	characterized by an onset in the late adolescence or early adulthood, early and predominant involvement of posterior calves, marked elevation of serum CK, dystrophic features in muscle biopsy, a slowly progressive course in the majority of patients
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	neuromuscular
Type	disease

Gene product

Name	dysferlin (DYSF)

Remark(s)

allelic to LGMD2B, with the same mutation of dysferlin giving alternatively cases differing by the primary muscle involvement, i.e distal (EDM3) or proximal (LGMD2B)