ISSN:
1573-6881
Keywords:
ATP
;
cardiopathy
;
deafness
;
diabetes
;
encephalomyopathy
;
KSS
;
Leigh
;
LHON
;
maternal inheritance
;
MELAS
;
MERRF
;
mitochondrial DNA
;
muscle
;
MILS
;
myopathy
;
NARP
;
oxidative phosphorylation
;
PEO
;
respiratory chain
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Chemistry and Pharmacology
,
Physics
Notes:
Abstract Approximately three years ago, this journal published a review on the clinical and molecular analysis of mitochondrial encephalomyopathies, with emphasis on defects in mitochondrial DNA (mtDNA). At that time, approximately 30 point mutations associated with a variety of maternally-inherited (or rarely, sporadic) disorders had been described. Since that time, almost twenty new pathogenic mtDNA point mutations have been described, and the pace of discovery of such mutations shows no signs of abating. This accumulating body of data has begun to reveal some patterns that may be relevant to pathogenesis.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1023/A:1022685929755
