Abnormal Expression of Dysferlin in Blood Monocytes Supports Primary Dysferlinopathy in Patients Confirmed by Genetic Analyses

Objective: Dysferlin deficiency causes dysferlinopathy. This study aimed to expand the mutational spectrum of dysferlinopathies, to further study one case with diagnostic ambiguity, and to identify the diagnostic value of dysferlin expression in total peripheral blood mononuclear cells (PBMC). Metho...

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Detalles Bibliográficos
Autores principales: Zhang, Huili, Li, Yaqin, Cheng, Qiusheng, Chen, Xi, Yu, Qiuxia, Li, Ze
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7890250/
https://www.ncbi.nlm.nih.gov/pubmed/33613410
http://dx.doi.org/10.3389/fneur.2020.540098

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7890250/
https://www.ncbi.nlm.nih.gov/pubmed/33613410
http://dx.doi.org/10.3389/fneur.2020.540098

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