" /> Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 - CISMeF





Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9;

Symbol : MDDGC9;

CISMeF acronym : LGMD2P; MDDGC9; LGMDR16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, limb-girdle, type 2p; Muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related; LGMD2P; LGMDR16; Muscular dystrophy, limb-girdle, autosomal recessive 16;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dystrophin-associated glycoprotein 1 gene (DAG1, 128239.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #613818;

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30/07/2025


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