Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A 467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4)...Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A 467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4)A467T/G848S. Homozygo sity for the A467T allele in one patient was associated with a later age at onse t. Mitochondrial respiratory chain studies in skeletal muscle were normal in eac h case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.展开更多
文摘Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A 467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4)A467T/G848S. Homozygo sity for the A467T allele in one patient was associated with a later age at onse t. Mitochondrial respiratory chain studies in skeletal muscle were normal in eac h case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.
