Abstract
We have studied the usefulness of anti-DNA antibodies to detect ragged-red fibers (RRF) in muscle biopsies from patients with mitochondrial myopathies. We have found that these antibodies are excellent probes for the localization of mitochondrial DNA (mtDNA) in RRF, and for the diagnosis of depletion of mtDNA in a newly described group of fatal myopathies of infancy.
Publication types
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Antibodies
-
Antibodies, Monoclonal
-
Biopsy
-
DNA, Mitochondrial / analysis*
-
DNA, Mitochondrial / genetics
-
Electron Transport Complex IV / analysis
-
Humans
-
Immunohistochemistry
-
Kearns-Sayre Syndrome / genetics
-
Kearns-Sayre Syndrome / pathology*
-
Mitochondria, Muscle / enzymology
-
Mitochondria, Muscle / ultrastructure
-
Muscles / enzymology
-
Muscles / pathology*
-
Muscular Diseases / genetics
-
Muscular Diseases / pathology*
-
Ophthalmoplegia / genetics
-
Ophthalmoplegia / pathology*
-
Reference Values
-
Succinate Dehydrogenase / analysis
Substances
-
Antibodies
-
Antibodies, Monoclonal
-
DNA, Mitochondrial
-
Succinate Dehydrogenase
-
Electron Transport Complex IV