Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA

被引：26

作者：

Deschauer, M

Bamberg, C

Claus, D

Zierz, S

Turnbull, DM

Taylor, RW

机构：

[1] Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Univ Halle Wittenberg, Dept Neurol, Halle Saale, Germany

[3] Univ Frankfurt, Teaching Hosp, Klinikum Darmstadt, Dept Neurol, D-6000 Frankfurt, Germany

来源：

NEUROLOGY | 2003年 / 60卷 / 08期

关键词：

D O I：

10.1212/01.WNL.0000055869.99975.4B

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 67-year-old man presented with cognitive deficits, status epilepticus, left hemiparesis, and severe lactic acidosis. Respiratory chain enzyme analysis of skeletal muscle revealed a defect in complex I activity, associated with a heteroplasmic C11777A mutation in the mitochondrial ND4 gene. This case is remarkable not only because of the late onset of symptoms, but because this mutation affects the identical ND4 codon as the G11778A mutation that causes Leber hereditary optic neuropathy.

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页码：1357 / 1359

页数：3

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