Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene

FEBS Letters

Drechsel, J.¹  Jaksch, M.¹  Gerbitz, K.-D.¹  Zierz, S.²  Paprotta, A.¹ 

[1] Institute für Klinische Chemie und Diabetesforschung, Städt. Krankenhaus München-Schwabing, München, Germany;Neurologische Universitätsklinik, Bonn, Germany

关键词: mtDNA mutation;    Diabetes;    Deafness;    Cardiomyopathy;    MELAS;    MELAS;    mitochondrial encephalo-myopathy;    lactic acidosis and stroke-like episodes;    mt;    mitochondrial;    nt;    nucleotide;   

DOI  :  10.1016/0014-5793(93)80106-5

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

A heteroplasmic point mutation (transition A-to-G at nucleotide position 3,243 in the mitochondrial tRNA^Leu(UUR) gene) is found in a family suffering from a syndrome with diabetes, deafness and cardiomyopathy as the predominant clinical features.

【 授权许可】

Unknown