Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.

TitleDominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies.
Publication TypeJournal Article
Year of Publication1991
AuthorsServidei, S, Zeviani, M, Manfredi, G, Ricci, E, Silvestri, G, Bertini, E, Gellera, C, Di Mauro, S, Di Donato, S, Tonali, P
JournalNeurology
Volume41
Issue7
Pagination1053-9
Date Published1991 Jul
ISSN0028-3878
KeywordsAdult, Chromosome Deletion, DNA, Mitochondrial, Female, Genes, Dominant, Humans, Male, Middle Aged, Mitochondria, Muscle, Muscles, Muscular Diseases, Pedigree, Polymerase Chain Reaction
Abstract

We studied a large family with a dominantly inherited mitochondrial myopathy characterized by progressive external ophthalmoplegia, dysphagia, cataract, lactic acidosis, exercise intolerance, and early death. Morphologic studies of muscle biopsies suggested mitochondrial heteroplasmy and revealed ragged-red fibers and decreased histochemical reactions for cytochrome c oxidase and succinate dehydrogenase. Biochemistry showed a partial defect of cytochrome c oxidase and a mild generalized reduction of other mitochondrial enzymes requiring mitochondrial DNA-encoded subunits. Southern blot analysis and PCR amplification showed mitochondrial DNA deletions in muscle of all affected members, but not in lymphocytes or fibroblasts, suggesting a tissue-specific distribution. Deletions were multiple and seemed to increase with time and to correlate with the severity of the disease.

DOI10.1212/wnl.41.7.1053
Alternate JournalNeurology
Citation Key10.1212/wnl.41.7.1053
PubMed ID2067633