" /> Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation - CISMeF





Preferred Label : Limb-girdle muscular dystrophy 2M, POMGnT1 gene mutation;

ICD-11 definition : Limb-girdle muscular dystrophy-2M (LGMD2M) is caused by a homozygous POMGnT1 missense mutation. It is characterized by onset is in the second decade, severe myopia, normal intellect, and decreased alpha-dystroglycan immunolabeling in skeletal muscle.;

ICD-11 synonym : limb-girdle muscular dystrophy 2M; LGMD2M - [limb-girdle muscular dystrophy 2M];

ICD-11 acronym : LGMD2M;

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Limb-girdle muscular dystrophy-2M (LGMD2M) is caused by a homozygous POMGnT1 missense mutation. It is characterized by onset is in the second decade, severe myopia, normal intellect, and decreased alpha-dystroglycan immunolabeling in skeletal muscle.

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28/07/2025


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