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J Inherit Metab Dis ; 26(6): 593-600, 2003.
Article in English | MEDLINE | ID: mdl-14605505

ABSTRACT

A 13-year-old girl with non-familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged-red fibres and 80% COX-negative staining. Enzymatic activities of mitochondrially co-encoded respiratory chain enzymes (complexes I, III, and IV) were decreased in muscle but normal in cultured skin fibroblasts. mtDNA analysis revealed the presence of the 7497G>A mutation in the tRNASer(UCN) gene, homoplasmic in skeletal muscle and 90% in leukocytes. Analysis of the mother's mtDNA showed 10% heteroplasmy in blood. It may be concluded that the 7497G>A mutation is associated with a muscle-only disease presentation for which high levels of mutated mtDNA are required. Exercise intolerance and muscle pain in otherwise normal children warrants further mitochondrial evaluation.


Subject(s)
Acidosis, Lactic/genetics , Exercise Tolerance/genetics , Muscular Diseases/genetics , Pain/genetics , RNA, Transfer, Ser/genetics , Acidosis, Lactic/complications , Adolescent , Brain/pathology , DNA, Mitochondrial/genetics , Electrocardiography , Electroencephalography , Electromyography , Evoked Potentials, Auditory/physiology , Evoked Potentials, Somatosensory/physiology , Female , Fibroblasts/enzymology , Humans , Magnetic Resonance Imaging , Muscle, Skeletal/enzymology , Muscle, Skeletal/pathology , Muscular Diseases/pathology , Oxidation-Reduction , Pain/complications , Reverse Transcriptase Polymerase Chain Reaction
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