Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions

被引：19

作者：

Blumenthal, DT

Shanske, S

Schochet, SS

Santorelli, FM

DiMauro, S

Jaynesm, M

Bodensteiner, J

机构：

[1] W Virginia Univ Hosp, Dept Neurol, Morgantown, WV USA

[2] W Virginia Univ Hosp, Dept Pathol, Morgantown, WV USA

[3] W Virginia Univ Hosp, Dept Child Neurol, Morgantown, WV USA

[4] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

来源：

NEUROLOGY | 1998年 / 50卷 / 02期

关键词：

D O I：

10.1212/WNL.50.2.524

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In a patient with clinical features of myoclonus epilepsy with ragged red fibers (MERFF), molecular genetic analysis of mitochondrial DNA did not show either of the two point; mutations typically associated with MERRF but did show multiple deletions by Southern blot. This case further illustrates the heterogeneity observed with mtDNA mutations.

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页码：524 / 525

页数：2

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