A recurrent homozygous missense DPM3 variant leads to muscle and brain disease.
Nagy S, Lau T, Alavi S, Karimiani EG, Vallian J, Ng BG, Noroozi Asl S, Akhondian J, Bahreini A, Yaghini O, Uapinyoying P, Bonnemann C, Freeze HH, Dissanayake VHW, Sirisena ND, Schmidts M, Houlden H, Moreno-De-Luca A, Maroofian R.
Nagy S, et al.
Clin Genet. 2022 Dec;102(6):530-536. doi: 10.1111/cge.14208. Epub 2022 Aug 19.
Clin Genet. 2022.
PMID: 35932216
Free PMC article.
Biallelic pathogenic variants in the genes encoding the dolichol-phosphate mannose synthase subunits (DPM) which produce mannosyl donors for glycosylphosphatidylinositols, N-glycan and protein O- and C-mannosylation, are rare causes of congenital disorders of glycosylation …
Biallelic pathogenic variants in the genes encoding the dolichol-phosphate mannose synthase subunits (DPM) which produce mannosyl donors for …