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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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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2010
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2861021/ https://ncbi.nlm.nih.gov/pubmed/20398363 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-5-7 |
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