Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene.
A heteroplasmic point mutation (transition A-to-G at nucleotide position 3,243 in the mitochondrial tRNALeu(UUR) gene) is found in a family suffering from a syndrome with diabetes, deafness and cardiomyopathy as the predominant clinical features.
Gerbitz
K D
KD
Institute für Klinische Chemie und Diabetesforschung, Städt. Krankenhaus München-Schwabing, Germany.
Paprotta
A
A
Jaksch
M
M
Zierz
S
S
Drechsel
J
J
D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D009202:Cardiomyopathies / Q000235:genetics; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D003920:Diabetes Mellitus / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012356:RNA, Transfer, Leu / Q000235:genetics*; D015183:Restriction Mapping; D013577:Syndrome
D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu