Ataxia Oculomotor Apraxia Type 1 in the Siblings of a Family: A Novel Mutation

Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over the world. The clinical manifestations are similar to ataxia telangiectasia in which non-neurological manifestations are absent a...

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Detalles Bibliográficos
Autores principales: KARIMZADEH, Parvaneh, KHAYATZADEH KAKHKI, Simin, ESMAIL NEJAD, Shaghayegh Sadat, HOUSHMAND, Masood, GHOFRANI, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5329765/
https://www.ncbi.nlm.nih.gov/pubmed/28277561

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5329765/
https://www.ncbi.nlm.nih.gov/pubmed/28277561

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