A CASE OF MITOCHONDRIAL MYOPATHY, LACTIC-ACIDOSIS AND COMPLEX-I DEFICIENCY

被引：24

作者：

BET, L

BRESOLIN, N

MOGGIO, M

MEOLA, G

PRELLE, A

SCHAPIRA, AH

BINZONI, T

CHOMYN, A

FORTUNATO, F

CERRETELLI, P

SCARLATO, G

机构：

[1] INST NEUROL, LONDON WC1N 3BG, ENGLAND

[2] UNIV GENEVA, MED CTR, DEPT PHYSIOL, CH-1211 GENEVA 4, SWITZERLAND

[3] CALTECH, DIV BIOL, PASADENA, CA 91125 USA

来源：

JOURNAL OF NEUROLOGY | 1990年 / 237卷 / 07期

关键词：

!sup]31[!/sup]P nuclear magnetic resonance; Mitochondria; Muscle; NADH-CoQ reductase;

D O I：

10.1007/BF00314729

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 34-year-old man affected by exercise intolerance, mild proximal weakness and severe lactic acidosis is described. Muscle biopsy revealed mitochondrial abnormalities and an increase of cytochrome c oxidase histochemical reaction. Biochemical investigations on isolated muscle mitochondria as well as polarographic studies revealed a mitochondrial NADH-CoQ reductase (complex I) deficiency. Mitochondrial dysfunction was confirmed by 31P nuclear magnetic resonance spectroscopy. Immunological investigation showed a generalized reduction of all complex I polypeptides. Genetic analysis did not reveal mitochondrial DNA deletions. The biochemical defect was not present in the patient's muscle tissue culture. Metabolic measurements and functional evaluation showed a reduced mechanical efficiency during exercise. © 1990 Springer-Verlag.

引用

页码：399 / 404

页数：6

共 39 条

[1] MUSCLE CARNITINE DEFICIENCY - FATTY-ACID METABOLISM IN CULTURED FIBROBLASTS AND MUSCLE-CELLS [J].