TY - JOUR
T1 - Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation
T2 - Patient report and literature review
AU - Damore, Mary Elizabeth
AU - Speiser, Phyllis W.
AU - Slonim, Alfred E.
AU - New, Maria I.
AU - Shanske, Sara
AU - Xia, Wenlang
AU - Santorelli, Filippo M.
AU - DiMauro, Salvatore
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0032914642&partnerID=8YFLogxK
U2 - 10.1515/JPEM.1999.12.2.207
DO - 10.1515/JPEM.1999.12.2.207
M3 - Article
C2 - 10392369
AN - SCOPUS:0032914642
SN - 0334-018X
VL - 12
SP - 207
EP - 213
JO - Journal of Pediatric Endocrinology and Metabolism
JF - Journal of Pediatric Endocrinology and Metabolism
IS - 2
ER -