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Literature DB >> 22426787

A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation.

Enrico Saracchi, J C Difrancesco, L Brighina, L Marzorati, N A Curtò, C Lamperti, F Carrara, M Zeviani, C Ferrarese.

Abstract

Entities: Disease Mutation

Mesh：

Substances：
DNA, Mitochondrial

Year: 2012 PMID： 22426787 DOI： 10.1007/s10072-012-1013-1

Source DB: PubMed Journal: Neurol Sci ISSN： 1590-1874 Impact factor: 3.307

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6 in total

1. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.

Authors: D M Kirby; S G Kahler; M L Freckmann; D Reddihough; D R Thorburn
Journal: Ann Neurol Date: 2000-07 Impact factor: 10.422

2. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.

Authors: A S Jun; I A Trounce; M D Brown; J M Shoffner; D C Wallace
Journal: Mol Cell Biol Date: 1996-03 Impact factor: 4.272

3. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.

Authors: Andrea Gropman; Tian-Jian Chen; Cherng-Lih Perng; Donna Krasnewich; Edith Chernoff; Cynthia Tifft; Lee-Jun C Wong
Journal: Am J Med Genet A Date: 2004-02-01 Impact factor: 2.802

4. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

Authors: A S Jun; M D Brown; D C Wallace
Journal: Proc Natl Acad Sci U S A Date: 1994-06-21 Impact factor: 11.205

5. Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.

Authors: Dario Ronchi; Alessandra Cosi; Davide Tonduti; Simona Orcesi; Andreina Bordoni; Francesco Fortunato; Mafalda Rizzuti; Monica Sciacco; Martina Collotta; Sophie Cagdas; Giuseppe Capovilla; Maurizio Moggio; Angela Berardinelli; Pierangelo Veggiotti; Giacomo P Comi
Journal: BMC Neurol Date: 2011-07-12 Impact factor: 2.474

6. Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report.

Authors: In-Suk Kim; Chang-Seok Ki; Ki-Jong Park
Journal: J Korean Med Sci Date: 2009-12-26 Impact factor: 2.153

6 in total

3 in total