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Article

A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy.

Journal of cellular and molecular medicine - 1 Aug 2025

Zhao Meifang, Liu Yuxing, Fan Liangliang, Liu Zhaochuan, Deng Yao, Tao Lihong

Abstract excerpt

Congenital muscular dystrophy (CMD) is a genetic muscle disorder characterised by muscle weakness and degeneration, either present at birth or emerging in middle age, often leading to progressive disability. MDC1A is a subtype of CMD caused by mutations in the LAMA2 gene. In this study, we investigated a family affected by CMD from a remote rural area. The proband exhibited typical muscle weakness symptoms,...

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Identifiers

PMID: 40751275
DOI: 10.1111/jcmm.70667
PMCID: PMC12316597

Genes

LAMA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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A Novel LAMA2 Mutation (c.7412G>A) Was Found in a Chinese Patient With Congenital Muscular Dystrophy.PMID 40751275Read ↗

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