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Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene
Muscular dystrophy-dystroglycanopathy is a heterogeneous group of inherited muscular dystrophies caused by glycosylation defects associated with different mutations. The main finding of the disease is disruption of the binding of cellular α-dystroglycan to its extracellular matrix ligands. O-mannose...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413589/ https://www.ncbi.nlm.nih.gov/pubmed/30937090 http://dx.doi.org/10.4103/JPN.JPN_36_18 |