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Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8.

Molecular genetics & genomic medicine - 1 Jul 2026

Zhuang Jianlong, Hong Meiling, Huang Qiumei, Jiang Yuying, Wang Junyu

Abstract excerpt

BACKGROUND: Nemaline myopathy (NEM) is a rare congenital muscular disorder characterized by slow progression or static neuromuscular symptoms, which is mainly caused by variants in genes encoding the myofilament protein of skeletal muscle sarcomere. This study aimed to conduct prenatal diagnosis and functional analysis of variants in the KLHL40 gene causing NEM 8. METHODS: A Chinese family who experienced...

Topics

Adult
Female
Humans
Male
Pregnancy
Adaptor Proteins, Signal Transducing
Heterozygote
Muscle Proteins
Mutation
Myopathies, Nemaline
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

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Open in PubMed Open full text

Identifiers

PMID: 42427124
DOI: 10.1002/mgg3.70270
PMCID: PMC13351305

Genes

KLHL40

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8.PMID 42427124Read ↗

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