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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Detalles Bibliográficos
Autores principales: Skrypnyk, Cristina, Husain, Aseel Ahmed, Hassan, Hisham Y., Ahmed, Jameel, Darwish, Abdulla, Almusalam, Latifa, Ben Khalaf, Noureddine, Al Qashar, Fahad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10070974/
https://www.ncbi.nlm.nih.gov/pubmed/37025449
http://dx.doi.org/10.3389/fgene.2023.1098102

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10070974/
https://www.ncbi.nlm.nih.gov/pubmed/37025449
http://dx.doi.org/10.3389/fgene.2023.1098102

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