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Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy

Background: Spinal and bulbar muscular atrophy (SBMA) or Kennedy disease [OMIM: 313200] is a rare X-linked neuromuscular disease. Patients commonly present with muscle cramps, tremors, leg weakness, dysarthria and dysphagia. Methods: We deeply phenotyped and evaluated the possible extent of affected...

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Detalles Bibliográficos
Autores principales: Millere, Elina, Rots, Dmitrijs, Glazere, Ieva, Taurina, Gita, Kurjane, Natalja, Priedite, Viktorija, Gailite, Linda, Blennow, Kaj, Zetterberg, Henrik, Kenina, Viktorija
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7856139/
https://www.ncbi.nlm.nih.gov/pubmed/33551952
http://dx.doi.org/10.3389/fneur.2020.586610