Associated Papers
Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.
Brande LV et al.
Neuropathology and Applied Neurobiology, 2023
Novel DPAGT1 Gene Mutation in Two Twins with Congenital Myasthenic Syndrome and a Review of the Literature.
Cheli M et al.
Journal of Neuromuscular Diseases, 2023
Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family.
Bogdanova-Mihaylova P et al.
European Journal of Neurology, 2018
Genetic disorders of dolichol synthesis and utilization.
Pieters E et al.
Molecular Genetics and Metabolism, 0
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