0103109 - FGU-C 20040089 RIV NL eng J - Journal Article
Kaplanová, Vilma - Zeman, J. - Hansíková, H. - Černá, L. - Houšťková, H. - Mišovicová, N. - Houštěk, Josef
Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family.
[Segregační profil a biochemický efekt mtDNA mutace G3460A u 27členné rodiny s LHON syndromem.]
Journal of the Neurological Sciences. Roč. 223, č. 2 (2004), s. 149-155. ISSN 0022-510X. E-ISSN 1878-5883
R&D Projects: GA MZd NR7790
Institutional research plan: CEZ:AV0Z5011922; CEZ:MSM 111100003
Keywords : LHON * G3460A mutation
Subject RIV: FB - Endocrinology, Diabetology, Metabolism, Nutrition
Impact factor: 2.366, year: 2004

Segregation pattern and Complex I activities were investigated for G3460A mtDNA mutation in large three-generation family with LHON syndrome. C I activity was decreased to 56% but no correlation to mutation load was found. Segregation pattern exhibited tissue specificity and significant influence of different nuclear backgrounds

Segragační profil a aktivity komplexu I byly zkoumány u mtDNA mutace G3460A v početné třígenerační rodině s LHON syndromem. Aktivita komplexu I byla snížena na 56%, ale nebyla nalezena spojitost s heteroplazmií. Segregační profil vykazuje tkáňovou specifitu a signifikantní vliv jaderného pozadí
Permanent Link: http://hdl.handle.net/11104/0010441