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Article

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.

Molecular genetics & genomic medicine - 1 Jun 2021

Yi Sheng, Zhang Yue, Qin Zailong, Yi Shang, Zheng Haiyang, Luo Jingsi, Li Qifei, Wang Jin, Yang Qi, Li Mengting, Chen Fei, Zhang Qiang, Zhang Qinle, Shen Yiping

Abstract excerpt

BACKGROUND: Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth. METHODS: An affected dizygotic twin pair from a non-consanguineous Chinese family presented with severe asphyxia, lethargy and no response to stimuli. The dysmorphic features included prominent...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33978323
DOI: 10.1002/mgg3.1683
PMCID: PMC8222828

Genes

KLHL40

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8.PMID 33978323Read ↗

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