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B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations
Congenital muscular dystrophies associated with brain malformations are a group of disorders frequently associated with aberrant glycosylation of α-dystroglycan. They include disease entities such a Walker–Warburg syndrome, muscle–eye–brain disease and various other clinical phenotypes. Different ge...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2014
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3992579/ https://ncbi.nlm.nih.gov/pubmed/24084573 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.223 |
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