Congenital muscular dystrophy type 1C, fukutin-related protein gene mutation (Q103692): Difference between revisions
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Distrofia muscular congênita tipo 1C, mutação do gene da proteína relacionada à fukutina é um transtorno autossômico recessivo raro caracterizado por distrofia muscular grave que se apresenta ao nascimento ou nas primeiras semanas de vida. É causada por mutações no gene que codifica a proteína relacionada à fukutina (FKRP). | |||
| description / en | description / en | ||
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). | |||
Revision as of 09:27, 17 August 2026
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). |
