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TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement
The dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Recently, mutations in TMEM5 have been described in severe dystroglycanopathies. We pre...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pergamon Press
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925463/ https://www.ncbi.nlm.nih.gov/pubmed/27212206 http://dx.doi.org/10.1016/j.nmd.2016.05.003 |