Last update 19 Sep 2024

Limb-Girdle Muscular Dystrophy, Type 2B

Basic Info

Synonyms
Autosomal recessive limb girdle muscular dystrophy type 2B, Autosomal recessive limb girdle muscular dystrophy type 2B (disorder), Autosomal recessive limb-girdle muscular dystrophy type 2B
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Introduction
An autosomal recessive condition caused by mutation(s) in the DYSF gene, encoding dysferlin. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.

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