Ontology highlight
ABSTRACT:
SUBMITTER: White SL
PROVIDER: S-EPMC1377946 | biostudies-other | 1999 Aug
REPOSITORIES: biostudies-other
White S L SL Collins V R VR Wolfe R R Cleary M A MA Shanske S S DiMauro S S Dahl H H HH Thorburn D R DR
American journal of human genetics 19990801 2
Mitochondrial genetics is complicated by heteroplasmy, or mutant load, which may be from 1%-99%, and thus may produce a gene dosage-type effect. Limited data are available for genotype/phenotype correlations in disorders caused by mtDNA mutations; therefore, prenatal diagnosis for mtDNA mutations has been hindered by an inability to predict accurately the clinical severity expected from a mutant load measured in fetal tissue. After reviewing 44 published and 12 unpublished pedigrees, we consider ...[more]