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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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