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

9 Sept 2022

Abstract excerpt

Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy (GNEM) is an autosomal recessive distal myopathy with rimmed vacuoles typically manifesting in late adolescence/early adulthood. GNE encodes the rate-limiting enzyme in sialic acid biosynthesis, which is necessary for the proper function of numerous...

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PMID: 36085325
DOI: 10.1038/s41536-022-00238-3

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