Article
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Molecular genetics and metabolism - 1 Jan 2021
Radenkovic Silvia, Fitzpatrick-Schmidt Taylor, Byeon Seul Kee, Madugundu Anil K, Saraswat Mayank, Lichty Angie, Wong Sunnie Y W, McGee Stephen, Kubiak Katharine, Ligezka Anna, Ranatunga Wasantha, Zhang Yuebo, Wood Tim, Friez Michael J, Clarkson Katie, Pandey Akhilesh, Jones Julie R, Morava Eva
Abstract excerpt
Pathogenic alterations in the DPM2 gene have been previously described in patients with hypotonia, progressive muscle weakness, absent psychomotor development, intractable seizures, and early death. We identified biallelic DPM2 variants in a 23-year-old male with truncal hypotonia, hypertonicity, congenital heart defects, intellectual disability, and generalized muscle wasting. His clinical presentation was much...
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