Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts.
Telerman-Toppet
N
N
Laboratoire de Pathologie Neuromusculaire, Brugmann University Hospital, Université Libre de Bruxelles, Belgium.
Biarent
D
D
Bouton
J M
JM
de Meirleir
L
L
Elmer
C
C
Noel
S
S
Vamos
E
E
DiMauro
S
S
D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D008928:Mitochondria / Q000378:metabolism / Q000648:ultrastructure; D009132:Muscles / Q000378:metabolism* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000209:etiology*; D013194:Staining and Labeling
D004272:DNA, Mitochondrial