Literature summary for 6.1.1.14 extracted from

Dierick, I.; Baets, J.; Irobi, J.; Jacobs, A.; De Vriendt, E.; Deconinck, T.; Merlini, L.; Van den Bergh, P.; Rasic, V.M.; Robberecht, W.; Fischer, D.; Morales, R.J.; Mitrovic, Z.; Seeman, P.; Mazanec, R.; Kochanski, A.; Jordanova, A.; Auer-Grumbach, M.; Helderman-van den Enden, A.T.; Wokke, J.H.
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study (2008), Brain, 131, 1217-1227.

Application

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

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Release 2023.1 (January 2023)