Article

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

2021-01-04

Abstract excerpt

<h4>ABSTRACT</h4> Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is an autosomal recessive distal myopathy with rimmed vacuoles that typically manifests in late adolescence/early adulthood. GNE encodes an enzyme that is the rate-limiting step in sialic acid biosynthesis which is necessary for proper fun...

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Literature Corpus work: a9304ac0-1a7e-5625-83bd-aa653978cf44
DOI: 10.1101/2021.01.04.425299

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