C142082Level 8
Limb-Girdle Muscular Dystrophy Type 2Z
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.
**Synonyms:** - Autosomal Recessive Muscular Dystrophy Limb-Girdle 21 - LGMD2Z - LGMDR21
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