POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism

OBJECTIVE: Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe an extended Belgian pedigree where seven individuals presented with adult‐onset cerebellar ataxia, axonal peripheral ataxic neuropathy,...

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Detalles Bibliográficos
Autores principales: Van Maldergem, Lionel, Besse, Arnaud, De Paepe, Boel, Blakely, Emma L., Appadurai, Vivek, Humble, Margaret M., Piard, Juliette, Craig, Kate, He, Langping, Hella, Pierre, Debray, François‐Guillaume, Martin, Jean‐Jacques, Gaussen, Marion, Laloux, Patrice, Stevanin, Giovanni, Van Coster, Rudy, Taylor, Robert W., Copeland, William C., Mormont, Eric, Bonnen, Penelope E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5221457/
https://www.ncbi.nlm.nih.gov/pubmed/28078310
http://dx.doi.org/10.1002/acn3.361

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