A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

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. Pathogenic variants in DP...

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Detalles Bibliográficos
Autores principales: Nagy, Sara, Lau, Tracy, Alavi, Shahryar, Karimiani, Ehsan Ghayoor, Vallian, Jalal, Ng, Bobby G., Noroozi Asl, Samaneh, Akhondian, Javad, Bahreini, Amir, Yaghini, Omid, Uapinyoying, Prech, Bonnemann, Carsten, Freeze, Hudson H., Dissanayake, Vajira H. W., Sirisena, Nirmala D., Schmidts, Miriam, Houlden, Henry, Moreno‐De‐Luca, Andres, Maroofian, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9633384/
https://www.ncbi.nlm.nih.gov/pubmed/35932216
http://dx.doi.org/10.1111/cge.14208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9633384/
https://www.ncbi.nlm.nih.gov/pubmed/35932216
http://dx.doi.org/10.1111/cge.14208

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