Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases

Abstract excerpt

GNE myopathy (GNEM) is a rare autosomal recessive disorder characterized by progressive skeletal muscle wasting starting in early adulthood. The prevalence of GNEM is estimated to range between one and nine cases per million individuals, but the accuracy of these estimates is limited by underdiagnosis, misdiagnosis, and bias introduced by founder allele frequencies. As GNEM is a recessive disorder, unaffected...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Celiac Disease Research and Management
• Share to Immunodeficiency and Autoimmune Disorders
• Share to Inflammatory Myopathies and Dermatomyositis