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.
Gene, 2013, Vol 515, Issue 2, p. 372-5
Base Sequence; DNA Mutational Analysis; Genetic Association Studies; Humans; Male; Middle Aged; Mitochondria, Muscle; Mitochondrial Myopathies; Mitochondrial Proton-Translocating ATPases; Mutation, Missense; Retinitis Pigmentosa; Case Reports; Journal Article