" /> Muscular dystrophy, limb-girdle, autosomal recessive 12 - CISMeF





Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 12;

Symbol : LGMDR12;

CISMeF acronym : LGMD2L; LGMDR12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LGMD2L; Muscular dystrophy, limb-girdle, type 2l;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 16E gene (TMEM16E, 608662.0003);

Laboratory abnormalities : Normal or increased serum creatine kinase;

Prefixed ID : #611307;

Détails


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28/07/2025


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