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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| Huvudupphov: | , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Utgiven: |
Frontiers Media S.A.
2023-03-01
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| Serie: | Frontiers in Genetics |
| Ämnen: | |
| Länkar: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1098102/full |
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