Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
Anastasiya A KozinaElena G OkunevaNatalia V BaryshnikovaOlga B KondakovaEkaterina A NikolaevaInessa D FedoniukSvetlana V MikhailovaAnna Y KrasnenkoIvan F StetsenkoNikolay A PlotnikovOlesia I KlimchukYaroslav V PopovEkaterina Ivanovna SurkovaPeter A ShatalovAlexander S RakitkoValery V IlinskyPublished in: Molecular genetics & genomic medicine (2020)
Our study expands the spectrum of mutations in lipofuscinosis. This is the first study to describe the molecular basis of NCLs in Russia and has profound and numerous clinical implications for diagnosis, genetic counseling, genotype-phenotype correlations, and prognosis.