| Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. | |
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MedLine Citation:
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PMID: 16049925 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The 8993T-->C mutation in mitochondrial DNA (mtDNA) has been described previously to be associated with infantile- or childhood-onset phenotypes, ranging from Leigh's syndrome to neurogenic weakness, ataxia, and retinitis pigmentosa syndrome. We report a kindred with adult-onset slowly progressive ataxia and polyneuropathy and with the heteroplasmic 8993T-->C mutation. Our findings suggest that the 8993T-->C mtDNA mutation should be considered in the differential diagnosis of nondominant adult-onset ataxia and axonal neuropathy. |
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Authors:
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Maria T Rantamäki; Heidi K Soini; Saara M Finnilä; Kari Majamaa; Bjarne Udd |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Annals of neurology Volume: 58 ISSN: 0364-5134 ISO Abbreviation: Ann. Neurol. Publication Date: 2005 Aug |
Date Detail:
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Created Date: 2005-08-02 Completed Date: 2005-10-31 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7707449 Medline TA: Ann Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 337-40 Citation Subset: IM |
Affiliation:
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Department of Physical Medicine and Rehabilitation, Seinäjoki Central Hospital, Seinäjoki, Finland. maria.rantamaki@epshp.fi |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged Ataxia / genetics* DNA Mutational Analysis / methods DNA, Mitochondrial / genetics* Female Humans Male Middle Aged Mutation* Pedigree Point Mutation Polyneuropathies / genetics* |
| Chemical | |
Reg. No./Substance:
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0/DNA, Mitochondrial |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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