Reversible infantile respiratory chain deficiency: A clinical and molecular study

Annals of Neurology

Volumn 68, Issue 6, 2010, Pages 845-854

  Mimaki, Masakazu ^a   Hatakeyama, Hideyuki ^a   Komaki, Hirofumi ^a,b   Yokoyama, Mina ^b   Arai, Hidee ^c   Kirino, Yohei ^d   Suzuki, Tsutomu ^d   Nishino, Ichizo ^a   Nonaka, Ikuya ^a,b   Goto, Yu Ichi ^a,b  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c CHIBA CHILDREN'S HOSPITAL   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; GLUTAMIC ACID; MITOCHONDRIAL DNA; NUCLEAR FACTOR; TRANSFER RNA;

ADULT; ARTICLE; BASAL GANGLION; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; CYBRID; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL DNA DISORDER; MYOBLAST; NEUROIMAGING; NORTHERN BLOTTING; PATHOGENICITY; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVERSIBLE INFANTILE RESPIRATORY CHAIN DEFICIENCY; SKELETAL MUSCLE;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; GLUTAMIC ACID; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL DISEASES; MUSCLE, SKELETAL; MUTATION; RNA, TRANSFER;

EID: 78650865715     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22111     Document Type: Article

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