Article
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.
American journal of human genetics - 1 Aug 1999
White S L, Collins V R, Wolfe R, Cleary M A, Shanske S, DiMauro S, Dahl H H, Thorburn D R
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.