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GENATLAS PHENOTYPE

last update : 04-03-2009

Symbol	LGMD2G
Location	17q12
Name	limb girdle muscular dystrophy 2G
Corresponding gene	TCAP
Main clinical features	Brazilian type, characterized by early onset, symmetrical weakness, atrophy of the proximal limb and trunck muscles, with rimmed vacuoles and mild evolution
Genetic determination	autosomal recessive
Related entries	. including isolated cardiomyopathy dilated (CMD1N : OMIM 607487 )
Function/system disorder	neuromuscular
Type	disease

Gene product

Name	sarcomeric protein telethonin

Remark(s)