[Leber's hereditary optic neuropathy: DNA-diagnosis and clinico-genetic comparisons in 12 families]

[Leber's hereditary optic neuropathy: DNA-diagnosis and clinico-genetic comparisons in 12 families] Research Abstract Details 

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[Leber's hereditary optic neuropathy: DNA-diagnosis and clinico-genetic comparisons in 12 families] Abstract Text:

E Iu Zakharova,G E Rudenskaia,I Z Karlova,L S Adarcheva,E N Mikha?lova,

Leber's hereditary optic neuropathy (LHON) is a worldwide spread neuro-ophthalmologic disease characterized by immediate pronounced visual reduction with a picture of retrobulbar neuritis, following by optic atrophy. The disease is caused by mitochondrial DNA mutations. Molecular genetic structure of 12 families, including 26 LHON patients, 13 of them being examined, is presented. All of the main primary mutations have been found: the most frequent 11778A (in 10 families), 3460A and 14484C (each in 1 family). In 5 families, the disease was clearly hereditary. Men predominated among the patients, that indicated a reduction of the gene penetrance in women. The most frequent age at the disease onset is 18-25 years. Clinico-genealogical LHON mechanisms correlate with mutation type. Molecular genetic mechanisms of the disease and possible environmental factors, influencing the gene penetrance, are discussed.

[Leber's hereditary optic neuropathy: DNA-diagnosis and clinico-genetic comparisons in 12 families] Publishing Authors By Initials

EIu Zakharova,GE Rudenskaia,IZ Karlova,LS Adarcheva,EN Mikha?lova,

For similar investigative techniques: genetic techniques: pedigree research abstracts see: investigative techniques: genetic techniques: pedigree research

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[Leber's hereditary optic neuropathy: DNA-diagnosis and clinico-genetic comparisons in 12 families] Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsak

VOLUME: 103

Page Numbers: 44-50

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ISSN: 1997-7298

DAY: 31

MONTH: 03

YEAR: 2003

[Leber's hereditary optic neuropathy: DNA-diagnosis and clinico-genetic comparisons in 12 families] Information

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LANGUAGE: rus

NlmUniqueID: 9712194

[Leber's hereditary optic neuropathy: DNA-diagnosis and clinico-genetic comparisons in 12 families] Keywords Mesh Terms:

KEYWORDS: Pedigree

MESH TERMS: genetics

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Country: Russia

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MEDLINETA: Zh Nevrol Psikhiatr Im S S Kor

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