期刊
NEUROLOGY
卷 54, 期 2, 页码 496-499出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.54.2.496
关键词
Friedreich ataxia; phenotype; missense mutation; X25 gene
资金
- Telethon [969] Funding Source: Medline
We describe two sisters with early onset gait ataxia, rapid disease progression, absent or very mild dysarthria and upper limb dysmetria, retained knee jerks in one, slight to moderate peripheral nerve involvement, and diabetes. Molecular analysis showed that they are compound heterozygotes for GAA expansion and a novel exon 5a missense mutation (R165P). This mutation appears to be associated with an atypical but not milder Friedreich ataxia phenotype.
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