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Article

Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8.

Orphanet journal of rare diseases - 4 Apr 2022

Yuan Haiming, Wang Qingming, Zeng Xiumei, He Peiqing, Xu Wanfang, Guo Hongmei, Liu Yanhui, Lin Yangyang

Abstract excerpt

BACKGROUND: Homozygous or compound heterozygous variants in the KLHL40 gene cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle disorder characterized by prenatal polyhydramnios, fetal akinesia or hypokinesia, joint contractures, fractures, respiratory failure and dysphagia. Currently, 46 individuals with NEM8 have been described in the literature, and 30 variants in KLHL40 have been identified....

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Identifiers

PMID: 35379254
DOI: 10.1186/s13023-022-02306-9
PMCID: PMC8981653

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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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