Congenital muscular dystrophy type 1C, fukutin-related protein gene mutation (Q103692): Difference between revisions

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Latest 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
default for all languages	ID_679025559
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).