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

BackgroundTo characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy.MethodsA descriptive observational study was done on a cohort of 112 Saudi Arabian families with LGMD. Screening for the Dysferlin (DYSF) ge...

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Principais autores: Norah Alharbi, Rawan Matar, Edward Cupler, Hindi Al-Hindi, Hatem Murad, Iftteah Alhomud, Dorota Monies, Ali Alshehri, Mossaed Alyahya, Brian Meyer, Saeed Bohlega
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-02-01
coleção:Frontiers in Neuroscience
Assuntos:
dysferlinopathy
limb-girdle muscular dystrophies (LGMD)
LGMD2B
Miyoshi myopathy
dysferlin
DYSF gene
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fnins.2022.815556/full
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