Gene: [0Ml14742/MTTE] tRNA glutamic acid (mitochondrial); myopathy and diabetes mellitus;

GEN

The gene length: 0.07 kb (69 bp).

MUT

The mitochondrial mutation identified in a 29-year-old man with progressive muscle weakness and exercise intolerance since the age of 27 years and diabetes mellitus since 29 years a T-to-C transition at mtDNA position 14709, which altered an evolutionarily conserved nucleotide in the region specifying for the anticodon loop of mitochondrial tRNA (Glu) (Hao-1995)."

REF

PAT,MUT "Hao H &: AJHG, 56, 1017-1025, 1995

KEY

mito, trl, aac

CLA

coding, basic

LOC

0M L14742-14674

MIM

MIM: 590025