Article
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
Neurology - 12 Oct 2004
Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin J J, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C
Abstract excerpt
OBJECTIVE: To identify POLG mutations in patients with sensory ataxia and CNS features. METHODS: The authors characterized clinical, laboratory, and molecular genetic features in eight patients from five European families. The authors conducted sequencing of coding exons of POLG, C10orf2 (Twinkle), and ANT1 and analyzed muscle mitochondrial DNA (mtDNA), including Southern blot analysis and long-range PCR....
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