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
Published in:	Frontiers in Genetics
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
Subjects:	congenital myopathy nemaline WES NEB KLHL40
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1098102/full

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