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
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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