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Article

A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.

BMC neurology - 4 Jun 2018

Miao Jing, Su Fei-Fei, Liu Xue-Mei, Wei Xiao-Jing, Yuan Yun, Yu Xue-Fan

Abstract excerpt

BACKGROUND: Filamin C-related myofibrillar myopathies (MFM) are progressive skeletal myopathies with an autosomal dominant inheritance pattern. The conditions are caused by mutations of the filamin C gene (FLNC) located in the chromosome 7q32-q35 region. Genetic variations in the FLNC gene result in various clinical phenotypes. CASE PRESENTATION: We describe a 43-year-old woman who suffered filamin C-related MFM,...

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Source

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Identifiers

PMID: 29866061
DOI: 10.1186/s12883-018-1078-4
PMCID: PMC5985593

Genes

FLNC

Variants

Provenance

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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