Alternative, simultaneous complex I mitochondrial ...[Biochem Biophys Res Commun. 1991]

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1: Biochem Biophys Res Commun. 1991 Feb 14;174(3):1324-30. Links

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

Johns DR, Berman J.

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.

Leber's hereditary optic neuropathy has been linked to a mitochondrial DNA mutation at position 11,778 in the ND-4 gene in 50% of families. Three alternative mutations in Complex I genes at positions 4,216 (ND-1), 4,917 (ND-2), and 13,708 (ND-5) were discovered in 11,778- Leber families. The 4,917 and 13,708 mutations appear pathogenetically significant and were observed in 36% (4,917 mutation) and 43% (13,708 mutation) of 11,778- Leber probands. Multiple, simultaneous mutations were noted. Mutation of distinct, functionally related Complex I genes is the central pathogenetic feature of Leber's hereditary optic neuropathy.

PMID: 1900003 [PubMed - indexed for MEDLINE]

Cytochrome b mutations in Leber hereditary optic neuropathy. [Biochem Biophys Res Commun. 1991]
An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene. [Am J Hum Genet. 1990]
High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy. [Hum Genet. 1993]
Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. [Ann Neurol. 1994]
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. [Biochem Biophys Res Commun. 1992]
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Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

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