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

ABSTRACT 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 diagn...

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Principais autores: Jianlong Zhuang, Meiling Hong, Qiumei Huang, Yuying Jiang, Junyu Wang
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2026-07-01
Serier:Molecular Genetics & Genomic Medicine
Fag:
exome sequencing
KLHL40
molecular diagnosis
nemaline myopathy 8
prenatal diagnosis
Online adgang:https://doi.org/10.1002/mgg3.70270
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