Mitochondrial encephalomyopathies: What next?

被引：48

作者：

DiMauro, S ^{[1
]}

机构：

[1] COLUMBIA PRESBYTERIAN MED CTR,H HOUSTON MERRITT CLIN RES CTR MUSCULAR DYSTROPHY,DEPT NEUROL,NEW YORK,NY 10032

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1996年 / 19卷 / 04期

关键词：

D O I：

10.1007/BF01799110

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In few areas of medicine has progress been more spectacular than in the field of mitochondrial diseases, especially those related to mtDNA mutations. Much remains to be done, however, and this brief review discusses the following areas of research where progress has been more limited or data are still controversial: (1) the molecular basis of respiratory-chain defects Clue to nuclear DNA mutations; (2) defects of mitochondrial protein importation; (3) defects of intergenomic signalling; (4) pathophysiology of mtDNA-related disorders; (5) ageing and age-related neurodegenerative diseases; (6) therapy; and (7) genetic counselling.

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页码：489 / 503

页数：15

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