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Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases
Personal take on this article: The research article estimates the prevalence of GNE myopathy (GNEM), a rare neuromuscular disorder, using data from population genetic databases. GNEM is caused by mutations in the GNE gene and is characterized by progressive muscle atrophy. Due to underdiagnosis, current prevalence estimates range between 1 to 9 cases per million, but these are likely underestimations. This study uses allele frequencies from large genetic …
