Application | Comment | Organism |
---|---|---|
medicine | the distribution of mutations in the seven genes identified for hereditary motor neuropathy (HMN) is investigated in a cohort of 112 familial and isolated patients with a diagnosis of HMN. Nine different disease-causing mutations are found in small heat shock 22 kDa protein 8, small heat shock 27 kDa protein 1, Berardinelli-Seip congenital lipodystrophy and senataxin in 17 patients. No mutations are found in glycyl-tRNA synthetase, dynactin 1 and VAPB(VAMP)-associated protein B and C | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
GARS | - |
Homo sapiens |
Glycyl-tRNA synthetase | - |
Homo sapiens |