Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
Fatima M BostanovaPolina G TsygankovaElena A LarshinaIlya O NagornovYulia V EvseevaIrina L KrutikhinaMarina E DzhentemirovaMarina N KashlakovaMarina S PetukhovaInna V SharkovaEkaterina Y ZakharovaPublished in: Genes (2024)
gene in four patients with LBSL and described their clinical and genetic characteristics. These results expand the mutational spectrum of LBSL and aim to improve the laboratory diagnosis of this form of leukodystrophy.