POLG mutations in Alpers syndrome.
case_series · Level IV
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- Record sourced from PubMed, PMID 16177225.
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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.
Medical subject headings
- DNA-Directed DNA Polymerase
- Diffuse Cerebral Sclerosis of Schilder
- Genetic Predisposition to Disease
- Mutation