Congenital muscular dystrophy type 1C, fukutin-related protein gene mutation (Q103692)
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Congenital muscular dystrophy type 1C, fukutin-related protein gene mutation is a rare autosomal recessive disorder characterised by severe muscular dystrophy presenting at birth or in the first few weeks of life. It is caused by mutations in the gene encoding fukutin-related protein (FKRP).
| Language | Label | Description | Also known as |
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| default for all languages | ID_679025559 |
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| English | Congenital muscular dystrophy type 1C, fukutin-related protein gene mutation |
Congenital muscular dystrophy type 1C, fukutin-related protein gene mutation is a rare autosomal recessive disorder characterised by severe muscular dystrophy presenting at birth or in the first few weeks of life. It is caused by mutations in the gene encoding fukutin-related protein (FKRP). |
