C142080Level 8
Limb-Girdle Muscular Dystrophy Type 2B
**Semantic type:** Disease or Syndrome
**Definition:** 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.
**Synonyms:** - Autosomal Recessive Muscular Dystrophy Limb-Girdle 2 - LGMD2B - LGMDR2
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