Navegando por Palavras-chave "Autosomal recessive"

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    Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis
    (Elsevier B.V., 2008-12-15) Ferreiro-Barros, Claudia Cristina [UNIFESP]; Tengan, Celia Harumi [UNIFESP]; Barros, Mario Henrique de; Palenzuela, Lluis; Kanki, Chisaka; Quinzii, Catarina; Lou, Johanna; El Gharaby, Nader; Shokr, Aly; De Vivo, Darryl C.; DiMauro, Salvatore; Hirano, Michio; Columbia Univ; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP); Bugshan Gen Hosp
    Mitochondrial diseases are clinically and genetically heterogeneous disorders due to primary mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). We studied a male infant with severe congenital encephalopathy, peripheral neuropathy, and myopathy. the patient's lactic acidosis and biochemical defects of respiratory chain complexes I, III, and IV in muscle indicated that he had a mitochondrial disorder while parental consanguinity suggested autosomal recessive inheritance. Cultured fibroblasts from the patient showed a generalized defect of mitochondrial protein synthesis. Fusion of cells from the patient with 143B206 rho(0) cells devoid of mtDNA restored cytochrome c oxidase activity confirming the nDNA origin of the disease. Our studies indicate that the patient has a novel autosomal recessive defect of mitochondrial protein synthesis. (C) 2008 Elsevier B.V. All rights reserved.