Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects

Variants in Phosphomannomutase 2 (PMM2) lead to PMM2-CDG, the most frequent congenital disorder of glycosylation (CDG). We here describe the disease course of a ten-month old patient who presented with the classical PMM2-CDG symptoms as cerebellar hypoplasia, retinitis pigmentosa, seizures, short st...

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Detalles Bibliográficos
Autores principales: Görlacher, Marlen, Panagiotou, Eleftheria, Himmelreich, Nastassja, Hüllen, Andreas, Beedgen, Lars, Dimitrov, Bianca, Geiger, Virginia, Zielonka, Matthias, Peters, Verena, Strahl, Sabine, Vázquez-Jiménez, Jaime, Kerst, Gunter, Thiel, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7658698/
https://www.ncbi.nlm.nih.gov/pubmed/33209585
http://dx.doi.org/10.1016/j.ymgmr.2020.100673

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