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Article

[Clinical features and FKRP mutations of congenital muscular dystrophy 1C].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Sept 2018

Hong Xiao-Wen, Chen Yan-Hui

Abstract excerpt

Congenital muscular dystrophy type 1C (MDC1C) is caused by the homozygous or compound heterozygous mutations of the FKRP gene. This article reported the clinical and mutation features of a child with MDC1C. The boy aged 8 months visited the hospital due to delayed development. As for clinical manifestations, the boy could not turn over or sit stably by himself, and there was a significant reduction in muscle...

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Identifiers

PMID: 30210031
PMCID: PMC7389173

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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