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GENATLAS PHENOTYPE

last update : 22/05/2006

Symbol	LGMD2E
Location	4q12
Name	limb girdle muscular dystrophy 2E
Corresponding gene	SGCB
Other symbol(s)	LGMDE, SCARMD3
Main clinical features	characterized by early onset, symetrical weakness, atrophy of the proximal limb and trunk muscles and severe dilated cardiomyopathy
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	sarcoglycan, beta, 43kD (SGCB)