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Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation |
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| Authors: | Spinazzola Antonella Carrara Franco Mora Marina Zeviani Massimo |
| Affiliation: | aUnit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders, National Neurological Institute “C. Besta”, via Temolo 4, 21033 Milan, Italy bUnit of Neuromuscular Disorders, National Neurological Institute, “C. Besta”, Milan, Italy |
| Abstract: | We describe a second patient carrying the 5698G→A transition in the mitochondrial DNA gene encoding tRNAAsn, who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. A muscle biopsy showed the presence of ragged-red and COX-negative fibres. Analysis of the mutation load on single muscle fibres showed significant segregation of the 5698G→A with COX-depleted fibres. These results indicate that the 5698G→A is pathogenic. |
| Keywords: | Chronic progressive external ophthalmoplegia Mitochondrial myopathy mtDNA Point mutation tRNA |
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