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ANO10 mutations cause ataxia and coenzyme Q(10) deficiency

Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for pa...

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書目詳細資料
發表在:J Neurol
Main Authors: Balreira, Andrea, Boczonadi, Veronika, Barca, Emanuele, Pyle, Angela, Bansagi, Boglarka, Appleton, Marie, Graham, Claire, Hargreaves, Iain P., Rasic, Vedrana Milic, Lochmüller, Hanns, Griffin, Helen, Taylor, Robert W., Naini, Ali, Chinnery, Patrick F., Hirano, Michio, Quinzii, Catarina M., Horvath, Rita
格式: Artigo
語言:Inglês
出版: Springer Berlin Heidelberg 2014
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4221650/
https://ncbi.nlm.nih.gov/pubmed/25182700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-014-7476-7
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