Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle

Neurology

Volumn 47, Issue 1, 1996, Pages 243-248

  Bentlage, H A C M ^a   Wendel, U ^a   Schagger H ^b   Ter Laak, H J ^a   Janssen, A J M ^a   Trijbels, J M F ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL FRANKFURT   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE;

ARTICLE; CASE REPORT; COMBINED IMMUNODEFICIENCY; ENZYME DEFICIENCY; FIBROBLAST; GENE EXPRESSION; HISTOCHEMISTRY; HUMAN; INFANT; INFANT DISEASE; LACTIC ACIDOSIS; LETHALITY; MALE; MITOCHONDRIAL MYOPATHY; MUSCLE CELL; MUSCLE DISEASE; POINT MUTATION; PRIORITY JOURNAL;

EID: 0030015691     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.47.1.243     Document Type: Article

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