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Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

OBJECTIVE: To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). CASE REPORT: Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of blood peroxi...

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主要な著者: Sevin, Caroline, Ferdinandusse, Sacha, Waterham, Hans R, Wanders, Ronald J, Aubourg, Patrick
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2011
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3064617/
https://ncbi.nlm.nih.gov/pubmed/21392394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-8
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