Cytochrome c oxidase deficiency in a child with isolated myopathy


Karadag A., Avci Z., Catal F., Odemis E.

FETAL AND PEDIATRIC PATHOLOGY, cilt.24, ss.149-153, 2005 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 24 Konu: 3
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1080/15227950500304218
  • Dergi Adı: FETAL AND PEDIATRIC PATHOLOGY
  • Sayfa Sayıları: ss.149-153

Özet

Cytochrome c oxidase ( COX) deficiency is the most commonly recognized respiratory chain defect in childhood. The disease is clinically heterogeneous with phenotypes including Leigh syndrome, hepatic failure and myopathies. COX deficiency has been associated with mitochondrial DNA mutations in COX I, II, and III with large- scale deletions of the mitochondrial genome and with point mutations in mitochondrial tRNA genes. Here we report on a 3.5- year- old girl with a rare type of isolated myopathy due to COX deficiency.