The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C

BACKGROUND: Friedreich ataxia (FRDA) is the most common familial ataxia syndrome in Central and Southern Europe but rare in Scandinavia. Biallelic mutations in SH3 domain and tetratricopeptide repeats 2 (SH3TC2) cause Charcot-Marie-Tooth disease type 4C (CMT4C), one of the most common autosomal rece...

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Detalhes bibliográficos
Publicado no:Cerebellum Ataxias
Main Authors: Skott, Humberto, Muntean-Firanescu, Cristina, Samuelsson, Kristin, Verrecchia, Luca, Svenningsson, Per, Malmgren, Helena, Cananau, Carmen, Espay, Alberto J., Press, Rayomand, Solders, Göran, Paucar, Martin
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6631598/
https://ncbi.nlm.nih.gov/pubmed/31346473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40673-019-0103-8
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