Avtor/Urednik		Lebon, S; Chol, M; Benit, P; Mugnier, C; Chretien, D; Giurgea, I; Kern, I
Naslov		Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency
Tip		članek
Vir		J Med Genet
Vol. in št.		Letnik 40, št. 12
Leto izdaje		2003
Obseg		str. 896-9
Jezik		eng
Abstrakt		Starting from a cohort of 50 NADH-oxidoreductase (complex I) deficient patients, we carried out the systematic sequence analysis of all mitochondrially encoded complex I subunits (ND1 to ND6 and ND4L) in affected tissues. This approach yielded the unexpectedly high rate of 20% mutation identification in our series. Recurrent heteroplasmic mutations included two hitherto unreported (T10158C and T14487C) and three previously reported mutations (T10191C, T12706C and A13514G) in children with Leigh or Leigh-like encephalopathy. The recurrent mutations consistently involved T-->C transitions (p<10(-4)). This study supports the view that an efficient molecular screening should be based on an accurate identification of respiratory chain enzyme deficiency.
Deskriptorji		ELECTRON TRANSPORT MUTATION DNA, MITOCHONDRIAL LEIGH DISEASE AGE FACTORS SEX FACTORS DNA MUTATIONAL ANALYSIS