Home Page |
References | OMIM | Gene | GeneReviews | HGMD | HGNC |
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) |