Abstract
A 42-year-old woman presented with myopathy and without a family history of neuromuscular disorder. Muscle biopsy showed ragged red fibers and reduced activities of mitochondrial respiratory chain enzyme complexes I, III, and IV. Analysis of mitochondrial DNA revealed a heteroplasmic T10010C mutation in the transfer RNA glycine gene.
Publication types
-
Case Reports
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Adult
-
Blotting, Southern
-
Creatine Kinase / blood*
-
Creatine Kinase / genetics*
-
DNA, Mitochondrial / genetics*
-
Electron Transport / genetics
-
Exercise / physiology*
-
Female
-
Humans
-
Mitochondrial Myopathies / genetics*
-
Mitochondrial Myopathies / physiopathology*
-
Muscle Fatigue / genetics*
-
Muscle Fatigue / physiology*
-
Muscle, Skeletal / pathology
-
Mutation / genetics*
-
Nerve Fibers / enzymology
-
RNA, Transfer, Gly / genetics*
-
Reverse Transcriptase Polymerase Chain Reaction
Substances
-
DNA, Mitochondrial
-
RNA, Transfer, Gly
-
Creatine Kinase