MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)

OBJECTIVE: To identify the causative gene mutation in a 5-generation Belgian family with dominantly inherited spinocerebellar ataxia and polyneuropathy, in which known genetic etiologies had been excluded. METHODS: We collected DNA samples of 28 family members, including 7 living affected individual...

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Detalles Bibliográficos
Autores principales: Depondt, Chantal, Donatello, Simona, Rai, Myriam, Wang, François Charles, Manto, Mario, Simonis, Nicolas, Pandolfo, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4991603/
https://www.ncbi.nlm.nih.gov/pubmed/27583304
http://dx.doi.org/10.1212/NXG.0000000000000094

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4991603/
https://www.ncbi.nlm.nih.gov/pubmed/27583304
http://dx.doi.org/10.1212/NXG.0000000000000094

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