The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia

INTRODUCTION: Limited diagnostics are available for inherited neuromuscular diseases (NMD) in South Africa and (excluding muscle disease) are mainly aimed at the most frequent genes underlying genetic neuropathy (GN) and spastic ataxias in Europeans. In this study, we used next-generation sequencing...

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Detalles Bibliográficos
Autores principales: Mahungu, Amokelani C., Steyn, Elizabeth, Floudiotis, Niki, Wilson, Lindsay A., Vandrovcova, Jana, Reilly, Mary M., Record, Christopher J., Benatar, Michael, Wu, Gang, Raga, Sharika, Wilmshurst, Jo M., Naidu, Kireshnee, Hanna, Michael, Nel, Melissa, Heckmann, Jeannine M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10497947/
https://www.ncbi.nlm.nih.gov/pubmed/37712079
http://dx.doi.org/10.3389/fneur.2023.1239725

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