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 |
