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GNE myopathy (GNE-M) is a rare, autosomal recessive disease, leading to progressive skeletal muscle atrophy and weakness in the limbs. Myopathy occurs due to pathogenic mutations in the GNE gene, resulting in reduced enzymatic activity of the GNE protein, a bifunctional enzyme involved in the sialic acid biosynthesis pathway. Over 250 pathogenic mutations in GNE have been reported, which can be found throughout the gene. While much work has been done to elucidate the muscle-specific disease mechanism of GNE-M, the development of patient-derived resources and cellular disease models, particularly those that encompass a wide range of pathogenic variants, would be an invaluable tool to further GNE myopathy research. In this study, we created a biobank of GNE myopathy patient-derived resources, including whole genome sequencing of GNE-M affected and unaffected individuals, as well as the …