MITOCHONDRIAL MYOPATHY WITH PROGRESSIVE DECREASE IN MITOCHONDRIAL TRNA(LEU(UUR)) MUTANT GENOMES

被引：23

作者：

KAWAKAMI, Y

SAKUTA, R

HASHIMOTO, K

FUJINO, O

FUJITA, T

HIDA, M

HORAI, S

GOTO, Y

NONAKA, I

机构：

[1] NATL INST NEUROSCI,NATL CTR NEUROL & PSYCHIAT,DIV ULTRASTRUCT RES,KODAIRA,TOKYO 187,JAPAN

[2] NATL INST GENET,DEPT HUMAN GENET,MISHIMA,SHIZUOKA 411,JAPAN

来源：

ANNALS OF NEUROLOGY | 1994年 / 35卷 / 03期

关键词：

D O I：

10.1002/ana.410350322

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A female patient with mitochondrial myopathy had a mitochondrial DNA mutation at nucleotide pair 3243, commonly seen in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS), but unlike MELAS patients, she had no central nervous system symptoms. Muscle weakness, which was most severe when she was 7 years old, improved gradually with age. Comparison of two muscle biopsies obtained at an interval of 12.5 years (7 and 20 years of age, respectively), revealed that the number of ragged‐red fibers was markedly decreased and histochemical cytochrome c oxidase activity increased in parallel with the decrease in population of mutant genomes. Copyright © 1994 American Neurological Association

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页码：370 / 373

页数：4

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