Article
High prevalence of impaired glucose homeostasis and myopathy in asymptomatic and oligosymptomatic 3243A>G mitochondrial DNA mutation-positive subjects.
The Journal of clinical endocrinology and metabolism - 1 Aug 2009
Frederiksen Anja Lisbeth, Jeppesen Tina Dysgaard, Vissing John, Schwartz Marianne, Kyvik Kirsten Ohm, Schmitz Ole, Poulsen Per Løgstrup, Andersen Per Heden
Abstract excerpt
INTRODUCTION: The point mutation of 3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome maternally inherited diabetes and deafness (MIDD). The mutation may also cause myopathy, ataxia, strokes, ophthalmoplegia, epilepsy, and cardiomyopathy in various combinations. Consequently, it is difficult to predict the "phenotypic risk profile" of 3243A>G mutation-positive...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.