A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly. It is usually milder than PMM2-CDG (CDG-Ia) and so is its natural course. It is characterized b...

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Detalles Bibliográficos
Autores principales: Al-Owain, Mohammed, Mohamed, Sarar, Kaya, Namik, Zagal, Ahmad, Matthijs, Gert, Jaeken, Jaak
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861021/
https://www.ncbi.nlm.nih.gov/pubmed/20398363
http://dx.doi.org/10.1186/1750-1172-5-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861021/
https://www.ncbi.nlm.nih.gov/pubmed/20398363
http://dx.doi.org/10.1186/1750-1172-5-7

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