Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion

Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity mapping revealed that several shared homozygous regions, including chromo...

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Main Authors: Emre Onat, Onur, Gulsuner, Suleyman, Bilguvar, Kaya, Nazli Basak, Ayse, Topaloglu, Haluk, Tan, Meliha, Tan, Uner, Gunel, Murat, Ozcelik, Tayfun
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3573203/
https://ncbi.nlm.nih.gov/pubmed/22892528
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.170
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