Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.

Autor: Bostanova FM; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Tsygankova PG; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Larshina EA; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Nagornov IO; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Evseeva YV; Ekaterinburg Research Institute of Viral Infections, 620030 Yekaterinburg, Russia., Krutikhina IL; Kirov Regional Children's Clinical Hospital, 610050 Kirov, Russia., Dzhentemirova ME; State Budgetary Healthcare Institution 'Magadan Region Center for Maternal and Child Health', 685000 Magadan, Russia., Kashlakova MN; St. Petersburg State Budgetary Institution, City Polyclinic, No. 114, 197374 St. Petersburg, Russia., Petukhova MS; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Sharkova IV; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia., Zakharova EY; Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.

Publikováno v: Genes [Genes (Basel)] 2024 May 11; Vol. 15 (5). Date of Electronic Publication: 2024 May 11.