A novel mitochondrial mutation m.8989G>C associated with neuropathy,ataxia, retinitis pigmentosa — The NARP syndrome |
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| Authors: | Morten Duno Flemming Wibrand Kirsten Baggesen Thomas Rosenberg Niels Kjaer Anja L. Frederiksen |
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| Affiliation: | 1. Dept. of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark;2. Dept. of Ophthalmology, Aalborg Hospital, Denmark;3. National Eye Clinic for the Visually Impaired, Kennedy Center, University Hospital, Rigshospitalet, Copenhagen, Denmark;4. Dept. of Neurology, Aalborg Hospital, Aalborg, Denmark;5. Dept. of Clinical Genetics, Vejle and Aalborg Hospital, Vejle, Denmark |
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| Abstract: | The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON). We report a novel mitochondrial point mutation, m.8989G>C, in a patient presenting with neuropathy, ataxia and retinitis pigmentosa constituting the classical NARP phenotype. This mutation alters the amino acid right next to canonical NARP mutation. We suggest that classic NARP syndrome relates to a defined dysfunction of p.MT-ATP6. |
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| Keywords: | ffERG, full-field electroretinogram LHON, Leber's hereditary optic neuropathy MELAS, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes MERRF, myoclonic epilepsy with ragged red fibers MID, mitochondrial disorders mtDNA, mitochondrial DNA NARP, neuropathy, ataxia, retinitis pigmentosa RRF, ragged red fibers |
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