Ontology highlight
ABSTRACT:
SUBMITTER: Rahman S
PROVIDER: S-EPMC1234919 | biostudies-literature | 2001 Jan
REPOSITORIES: biostudies-literature
Rahman S S Poulton J J Marchington D D Suomalainen A A
American journal of human genetics 20001120 1
It is widely held that changes in the distribution of mutant mtDNAs underlie the progressive nature of mtDNA diseases, but there are few data documenting such changes. We compared the levels of 3243 A-->G mutant mtDNA in blood at birth from Guthrie cards and at the time of diagnosis in a blood DNA sample from patients with mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome. Paired blood DNA samples separated by 9-19 years were obtained from six patients with ...[more]