Why the study?
GNE myopathy is a rare hereditary disease and the most common distal myopathy in several countries, prompting the analysis of mutational spectrum and clinical data in Russia.
Population
Patients with GNE myopathy from Russia
Design
Cohort study
Authors
Loading...
May broaden GNE myopathy diagnosis in atypical cases; extends mutational spectrum but leaves pathogenicity and prevalence open.
The study expands the mutational and clinical spectrum of GNE myopathy in Russia, identifying 10 novel variants and atypical phenotypic presentations.
Murtazina et al. (2022) studied this question.
Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context: