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). | |||||||||||||||
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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). | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/679025559 / rank | |||||||||||||||
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CID11:ID_679025559 | |||||||||||||||
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dki-india-ID_679025559 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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16 August 2026
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| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
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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).
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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). |
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CID11:ID_679025559
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dki-india-ID_679025559
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Concluído
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16 August 2026
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