MITOCHONDRIAL DYSFUNCTION IN MULTIPLE SYMMETRICAL LIPOMATOSIS

被引：100

作者：

BERKOVIC, SF

ANDERMANN, F

SHOUBRIDGE, EA

CARPENTER, S

ROBITAILLE, Y

ANDERMANN, E

MELMED, C

KARPATI, G

机构：

[1] MCGILL UNIV,MONTREAL NEUROL INST & HOSP,3801 UNIV,MONTREAL H3A 2B4,QUEBEC,CANADA

[2] MCGILL UNIV,DEPT NEUROL & NEUROSURG,MONTREAL H3A 2B4,QUEBEC,CANADA

[3] SIR MORTIMER B DAVIS JEWISH HOSP,MONTREAL H3T 1E2,QUEBEC,CANADA

来源：

ANNALS OF NEUROLOGY | 1991年 / 29卷 / 05期

关键词：

D O I：

10.1002/ana.410290519

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Multiple symmetrical lipomatosis is a striking clinical finding associated with a variety of peripheral and central nervous system abnormalities. We describe 4 unrelated patients with evidence of mitochondrial dysfunction in skeletal muscle. Multiple symmetrical lipomatosis is an additional, albeit unusual, manifestation of the expanding clinical spectrum of mitochondrial diseases.

引用

页码：566 / 569

页数：4

共 19 条

[1] MYOCLONUS EPILEPSY AND RAGGED-RED FIBERS (MERRF) .1. A CLINICAL, PATHOLOGICAL, BIOCHEMICAL, MAGNETIC-RESONANCE SPECTROGRAPHIC AND POSITRON EMISSION TOMOGRAPHIC STUDY [J].