2024
DOI: 10.1155/2024/7377504
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Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases

Alexa Derksen,
Rachel Thompson,
Madeeha Shaikh
et al.

Abstract: 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 carriers of single damaging variants can be expected to be found in the healthy population, providing … Show more

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