" /> Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5 - CISMeF





Preferred Label : Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5;

Symbol : MDDGB5;

CISMeF acronym : MDDGB5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, congenital, fkrp-related; Muscular dystrophy, congenital, 1c; MDC1C;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fukutin-related protein gene (FKRP, 606596.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #606612;

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04/05/2025


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