title: A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.
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.
authors.affiliation: Dept. of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark. mdunoe@rh.dk
authors.forename: Morten
authors.initials: M
authors.lastname: Duno
authors.forename: Flemming
authors.initials: F
authors.lastname: Wibrand
authors.forename: Kirsten
authors.initials: K
authors.lastname: Baggesen
authors.forename: Thomas
authors.initials: T
authors.lastname: Rosenberg
authors.forename: Niels
authors.initials: N
authors.lastname: Kjaer
authors.forename: Anja L
authors.initials: AL
authors.lastname: Frederiksen
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000201:enzymology; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D020125:Mutation, Missense; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics
chemical_list: C501005:MT-ATP6 protein, human; D025261:Mitochondrial Proton-Translocating ATPases