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Rigshospitalet - a part of Copenhagen University Hospital
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A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome

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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.
Original languageEnglish
JournalGene
Volume515
Issue number2
Pages (from-to)372-5
Number of pages4
ISSN0378-1119
DOIs
Publication statusPublished - 2013

ID: 36883327