POLG mutations in Alpers syndrome

被引：99

作者：

Nguyen, KV

Ostergaard, E

Ravn, SH

Balslev, T

Danielsen, ER

Vardag, A

McKiernan, PJ

Gray, G

Naviaux, RK

机构：

[1] Mitochondrial & Metab Dis Ctr, San Diego, CA 92103 USA

[2] Univ Calif San Diego, Dept Med, San Diego, CA 92103 USA

[3] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA

[4] John F Kennedy Inst, DK-2600 Glostrup, Denmark

[5] Rigshosp, Dept Genet, DK-2100 Copenhagen, Denmark

[6] Rigshosp, Dept Pediat, DK-2100 Copenhagen, Denmark

[7] Aarhus Univ Hosp, Skejby Hosp, Dept Paediat, DK-8000 Aarhus, Denmark

[8] Univ Copenhagen, Rigshosp, Dept Radiol, DK-2100 Copenhagen, Denmark

[9] W Boca Med Ctr, Boca Raton, FL USA

[10] Childrens Hosp NHS Trust, Liver Unit, Birmingham, W Midlands, England

[11] Childrens Hosp, Birmingham B16 8ET, W Midlands, England

来源：

NEUROLOGY | 2005年 / 65卷 / 09期

关键词：

D O I：

10.1212/01.wnl.0000182814.55361.70

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1493 / 1495

页数：3

共 7 条

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