Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort

Abstract Background Diagnosis of hereditary myopathy is often challenging owing to overlapping clinical phenotypes and muscle histopathological findings. This retrospective study aimed to identify the phenotypic and genotypic spectra of hereditary myopathies at a tertiary hospital in Riyadh, Saudi A...

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Bibliografski detalji

Glavni autori:	Reem M. Alhammad, Marwa L. Alrehaili, Hana M. Albulaihe, Sultan S. Aljereish, Mohammed H. Alanazy
Format:	Artigo
Jezik:	Inglês
Izdano:	BMC 2024-09-01
Serija:	BMC Neurology
Teme:	Inherited myopathies Genetic myopathies Clinical phenotypes in inherited myopathies Molecular testing in inherited myopathies
Online pristup:	https://doi.org/10.1186/s12883-024-03838-2
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