We report a family in which a mother and son were affected with diabetes mellitus and myopathy characterized by ragged red fibers and suggestive of mitochondrial disease. Mitochondrial DNA (mtDNA) analysis of DNA isolated from peripheral blood showed a T→C point mutation at nucleotide position 14709, in the transfer RNA gene for glutamic acid. We review the association of diabetes and mtDNA mutations. This child's case is unusual because of the early onset of diabetes, which is more typical of mtDNA deletions.
|Number of pages||7|
|Journal||Journal of Pediatric Endocrinology and Metabolism|
|Publication status||Published - 1999|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health