Clinical and molecular findings in children with complex I deficiency

Biochimica et Biophysica Acta - Bioenergetics

Volumn 1659, Issue 2-3, 2004, Pages 136-147

  Bugiani, M ^a   Invernizzi, F ^b   Alberio, S ^b   Briem, E ^b   Lamantea, E ^b   Carrara, F ^b   Moroni, I ^a   Farina, L ^a   Spada, M ^c   Donati, M A ^d   Uziel, G ^a   Zeviani, M ^b  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b National Institute of Neurology C Besta   (Italy)

^c REGINA MARGHERITA CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Children; Complex I deficiency; Mitochondrial disorder; mtDNA mutation; Nuclear DNA mutation

Indexed keywords

MITOCHONDRIAL DNA;

ANALYTIC METHOD; CARDIOMYOPATHY; COMPLEX I DEFICIENCY; CONFERENCE PAPER; GENE FREQUENCY; GENE MUTATION; GENE REARRANGEMENT; GENETIC HETEROGENEITY; GENETIC TRANSCRIPTION; HOMOZYGOSITY; HUMAN; LEIGH DISEASE; LEUKOENCEPHALOPATHY; PRIORITY JOURNAL;

ACIDOSIS, LACTIC; CARDIOMYOPATHIES; CHILD; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; HUMANS; INFANT; IRON-SULFUR PROTEINS; LEIGH DISEASE; LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL; METABOLISM, INBORN ERRORS; MITOCHONDRIAL PROTEINS; MUTATION; NAD(P)H DEHYDROGENASE (QUINONE); NADH DEHYDROGENASE; PROTEINS;

EID: 9644275464     PISSN: 00052728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbabio.2004.09.006     Document Type: Conference Paper

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