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GENATLAS PHENOTYPE
last update : 5/12/2005
Symbol SCARMD4
Location 3p21.31
Name severe childhood muscular dystrophy 4
Corresponding gene DAG1
Main clinical features myopathy with mental retardation and abnormal ERG, including milder forms
Genetic determination autosomal recessive
Function/system disorder neuromuscular
Type disease
Gene product
Name dystroglycan beta (DAG1)
Remark(s)