Mitochondrial disease
The diseases that result from mutation in mitochondrial DNA
have been recognized as such only since the 1990s. They result
from point mutations, deletions, and other rearrangements.
Many of the disorders are known as mitochondrial myopathies
(diseases of muscles) because skeletal myopathy or cardiomy-
opathy are characteristic features. One notable disease
resulting from mutation in mitochondrial DNA is known as
mitochondrial encephalomyopathy, lactic acidosis, and stroke-
like episodes (MELAS). In general, most of the disorders express
themselves chemically in elevated concentrations of lactic acid
in the blood or cerebrospinal fluid.
Human Genetics (continued)
+
ward
'
s
science
5100 West Henrietta Road • PO Box 92912 • Rochester, New York 14692-9012 • p: 800 962-2660 • wardsci.com
This article was originally published by McGraw Hill's AccessScience.
Click here to view and find more articles like this.
+
ward
'
s
science
5100 West Henrietta Road • PO Box 92912 • Rochester, New York 14692-9012 • p: 800 962-2660 • wardsci.com
This article was originally published by McGraw Hill's AccessScience.
Click here to view and find more articles like this.
