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PMID: 8533781 Published · ppublish English Letter Research Support, Non-U.S. Gov't

The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity.

American journal of human genetics ·Vol. 57 ·No. 6 ·1995-12-00 ·Pages 1501-2

Cock HR, Cooper JM, Schapira AH

Abstract

暂无摘要

MeSH Terms

Adult Aged DNA, Mitochondrial/genetics Female Fibroblasts/chemistry Humans Male Middle Aged Mutation Optic Atrophies, Hereditary/genetics

Chemicals

DNA, Mitochondrial

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Cock H R

Cooper J M

Schapira A H

References (9)

9 references, click to expand

A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance.
Brain. 1970;93(1):121-32 PMID: 5418396
A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.
N Engl J Med. 1989 May 18;320(20):1331-3 PMID: 2497346
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.
Am J Hum Genet. 1991 May;48(5):935-42 PMID: 2018041
Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
FEBS Lett. 1991 Nov 4;292(1-2):289-92 PMID: 1959619
Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.
J Med Genet. 1995 Feb;32(2):81-7 PMID: 7760326
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.
Am J Hum Genet. 1992 Dec;51(6):1218-28 PMID: 1463007
Platelet mitochondrial function in Leber's hereditary optic neuropathy.
J Neurol Sci. 1994 Mar;122(1):80-3 PMID: 8195807
Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.
FEBS Lett. 1994 Oct 3;352(3):375-9 PMID: 7926004
Leber's hereditary optic neuropathy and complex I deficiency in muscle.
Ann Neurol. 1991 Nov;30(5):701-8 PMID: 1763894

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1995-12-00

Pages

1501-2

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1801418

Subset

External Links

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