autosomal recessive limb-girdle muscular dystrophy type 2Z (Q55788365)
(Redirected from Q53996622)
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.
- Limb-Girdle Muscular Dystrophy Type 2Z
- LGMD2Z
- limb-girdle muscular dystrophy type 2Z
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | autosomal recessive limb-girdle muscular dystrophy type 2Z |
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. |
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Statements
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C142082
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C142082
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Identifiers
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1 reference