Ontology highlight
ABSTRACT:
SUBMITTER: Jaksch M
PROVIDER: S-EPMC1051480 | biostudies-other | 1998 Nov
REPOSITORIES: biostudies-other
Jaksch M M Hofmann S S Kleinle S S Liechti-Gallati S S Pongratz D E DE Müller-Höcker J J Jedele K B KB Meitinger T T Gerbitz K D KD
Journal of medical genetics 19981101 11
COX deficiency is believed to be the most common defect in neonates and infants with mitochondrial diseases. To explore the causes of this group of disorders, we examined 25 mitochondrial genes (three COX subunit genes and 22 tRNA genes) and 10 nuclear COX subunit genes for disease associated mutations using PCR-SSCP and direct sequencing of polymorphic SSCP fragments. DNA from one patient with severe COX deficiency and with consanguineous parents was entirely sequenced. The patient population c ...[more]