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GENATLAS PHENOTYPE

last update : 16-09-2013

Symbol	MDDGC14
Location	3p21.31
Name	muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
Corresponding gene	GMPPB
Main clinical features	muscular dystrophy characterized by onset in early childhood of mild proximal muscle weakness additional features, such as mild intellectual disability or seizures
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)