Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

BACKGROUND: To characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy. METHODS: A descriptive observational study was done on a cohort of 112 Saudi Arabian families with LGMD. Screening for the Dysferlin (DYS...

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Detalles Bibliográficos
Autores principales: Alharbi, Norah, Matar, Rawan, Cupler, Edward, Al-Hindi, Hindi, Murad, Hatem, Alhomud, Iftteah, Monies, Dorota, Alshehri, Ali, Alyahya, Mossaed, Meyer, Brian, Bohlega, Saeed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8902167/
https://www.ncbi.nlm.nih.gov/pubmed/35273475
http://dx.doi.org/10.3389/fnins.2022.815556

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8902167/
https://www.ncbi.nlm.nih.gov/pubmed/35273475
http://dx.doi.org/10.3389/fnins.2022.815556

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