TY - JOUR
T1 - A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome
AU - Duno, Morten
AU - Wibrand, Flemming
AU - Baggesen, Kirsten
AU - Rosenberg, Niels Thomas
AU - Olsen, Niels Kjær
AU - Frederiksen, Anja Lisbeth
PY - 2013/2/25
Y1 - 2013/2/25
N2 - 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.
AB - 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.
KW - Base Sequence
KW - DNA Mutational Analysis
KW - Genetic Association Studies
KW - Humans
KW - Male
KW - Middle Aged
KW - Mitochondria, Muscle
KW - Mitochondrial Myopathies
KW - Mitochondrial Proton-Translocating ATPases
KW - Mutation, Missense
KW - Retinitis Pigmentosa
U2 - 10.1016/j.gene.2012.12.066
DO - 10.1016/j.gene.2012.12.066
M3 - Journal article
C2 - 23266623
SN - 0378-1119
VL - 515
SP - 372
EP - 375
JO - Gene
JF - Gene
IS - 2
ER -