Abstract
A 40-year-old female suffering from recurrent migrainous strokes is reported. She did not show any muscle weakness or wasting. Ragged red and cytochrome c oxidase negative fibers were present in the muscle biopsy. Muscle mitochondrial DNA analysis showed a 5 kb deletion, without a point mutation at nucleotide pair 3243 in the mitochondrial tRNALeu(UUR) gene. Phosphorus nuclear magnetic resonance spectroscopy of brain and gastrocnemius muscle showed a defective energy metabolism in both organs. An increased inorganic phosphate to phosphocreatine ratio due to a decreased phosphocreatine content was found in the occipital lobes, while an abnormal work-energy cost transfer function and a low rate of phosphocreatine post-exercise recovery were found in the muscle.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Blotting, Southern
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Brain / metabolism*
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Brain / pathology
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Chromosome Deletion*
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DNA Restriction Enzymes
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DNA, Mitochondrial / genetics*
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Electron Transport Complex IV / metabolism
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Energy Metabolism
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Female
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Histocytochemistry
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Humans
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Magnetic Resonance Spectroscopy / methods
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Migraine Disorders / genetics*
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Migraine Disorders / metabolism
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Migraine Disorders / pathology
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Mitochondria, Muscle / metabolism
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Mitochondria, Muscle / physiology*
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Muscles / metabolism*
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Muscles / pathology
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Oligodeoxyribonucleotides
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Phosphorus
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RNA, Ribosomal / genetics
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RNA, Transfer / genetics
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RNA, Transfer, Leu / genetics*
Substances
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DNA, Mitochondrial
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Oligodeoxyribonucleotides
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RNA, Ribosomal
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RNA, Transfer, Leu
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Phosphorus
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RNA, Transfer
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Electron Transport Complex IV
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DNA Restriction Enzymes