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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: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2011
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| 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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