Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing

BACKGROUND: Spinocerebellar ataxia type 28 (SCA28) is related to mutations of the ATPase family gene 3-like 2 gene (AFG3L2). To date, 13 private missense mutations have been identified in families of French, Italian, and German ancestry, but overall, the disorder seems to be rare in Europe. Here, we...

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Detalles Bibliográficos
Autores principales: Zühlke, Christine, Mikat, Barbara, Timmann, Dagmar, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Bürk, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681123/
https://www.ncbi.nlm.nih.gov/pubmed/26677414
http://dx.doi.org/10.1186/s40673-015-0038-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681123/
https://www.ncbi.nlm.nih.gov/pubmed/26677414
http://dx.doi.org/10.1186/s40673-015-0038-7

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