A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

Walinka van TolAngel AshikovEckhard KorschNurulamin Abu BakarMichèl A WillemsenChristian ThielDirk J Lefeber

Published in: JIMD reports (2019)

Mannose-phosphate-dolichol utilization defect 1 patients can have overlapping biochemical and clinical abnormalities of congenital disorders of glycosylation type I and dystroglycanopathy.

Keyphrases

muscular dystrophy
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
duchenne muscular dystrophy