Publications by authors named "Tzvetelina Lubenova Vammen"
Case report: 'AARS2 leukodystrophy'.
Tobias Melton Axelsen Tzvetelina Lubenova Vammen Mads Bak Nelsan Pourhadi Christian Midtgaard Stenør
Mol Genet Metab Rep
September 2021
Background: Mitochondrial alanyl-tRNA synthetase 2 gene () related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is considered ultra-rare with only 39 cases of AARS2-leukodystrophy previously reported.
Case Presentation: We present the case of a young man of consanguineous heritage suffering from cognitive decline and progressive spasticity as well as weakness of the proximal musculature.