doi: 10.1212/01.wnl.0000182814.55361.70.
Epub 2005 Sep 21.
POLG mutations in Alpers syndrome
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- PMID: 16177225
- DOI: 10.1212/01.wnl.0000182814.55361.70
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POLG mutations in Alpers syndrome
Neurology.
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Abstract
Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.
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