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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Jianlong Zhuang, Meiling Hong, Qiumei Huang, Yuying Jiang, Junyu Wang
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley 2026-07-01
Schriftenreihe:Molecular Genetics & Genomic Medicine
Schlagworte:
exome sequencing
KLHL40
molecular diagnosis
nemaline myopathy 8
prenatal diagnosis
Online-Zugang:https://doi.org/10.1002/mgg3.70270
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