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.
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Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Chretien, D
Bénit, P
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Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Bénit, P
Chol, M
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Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Chol, M
Lebon, S
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Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Lebon, S
Rötig, A
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Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Rötig, A
Munnich, A
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Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Munnich, A
Rustin, P
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Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
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Hop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, France
Parfait, B
Rustin, P
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Hop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, France
Rustin, P
Munnich, A
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Hop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, France
Munnich, A
Rötig, A
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h-index: 0
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Hop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, France
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Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Chretien, D
Bénit, P
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Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Bénit, P
Chol, M
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Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Chol, M
Lebon, S
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Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Lebon, S
Rötig, A
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h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Rötig, A
Munnich, A
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h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
Munnich, A
Rustin, P
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h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, Unite Rech Handicaps Genet Enfant, U393, F-75743 Paris 15, France
机构:
Hop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, France
Parfait, B
Rustin, P
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h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, France
Rustin, P
Munnich, A
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h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, France
Munnich, A
Rötig, A
论文数: 0引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, FranceHop Necker Enfants Malad, INSERM, U393, Unite Rech Handicaps Genet Enfant, F-75743 Paris 15, France