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A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome

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@article{5b77a433f9db4b6b8c94428fdaf0bc4a,
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.",
author = "Morten Duno and Flemming Wibrand and Baggesen, {Kirsten Lau} and Thomas Rosenberg and Niels Kjaer and Frederiksen, {Anja Lisbeth}",
note = "Copyright {\circledC} 2012 Elsevier B.V. All rights reserved.",
year = "2013",
doi = "10.1016/j.gene.2012.12.066",
language = "English",
volume = "515",
pages = "372--5",
journal = "Gene",
issn = "0378-1119",
publisher = "Elsevier BV",
number = "2",

}

RIS

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 Lau

AU - Rosenberg, Thomas

AU - Kjaer, Niels

AU - Frederiksen, Anja Lisbeth

N1 - Copyright © 2012 Elsevier B.V. All rights reserved.

PY - 2013

Y1 - 2013

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.

U2 - 10.1016/j.gene.2012.12.066

DO - 10.1016/j.gene.2012.12.066

M3 - Journal article

VL - 515

SP - 372

EP - 375

JO - Gene

JF - Gene

SN - 0378-1119

IS - 2

ER -

ID: 36883327