Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy

Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments. Most patients have congenital onset characterized by hypotonia, respiratory issues, and abnormal...

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Bibliographic Details
Main Authors: Cristina Skrypnyk, Aseel Ahmed Husain, Hisham Y. Hassan, Jameel Ahmed, Abdulla Darwish, Latifa Almusalam, Noureddine Ben Khalaf, Fahad Al Qashar
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Genetics
Subjects:
congenital
myopathy
nemaline
WES
NEB
KLHL40
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1098102/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1098102/full

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