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Muscular dystrophies due to glycosylation defects
In the last few years, muscular dystrophies due to reduced glycosylation of alpha-dystroglycan (ADG) have emerged as a common group of conditions, now referred to as dystroglycanopathies. Mutations in six genes (POMT1, POMT2, POMGnT1, Fukutin, FKRP and LARGE) have so far been identified in patients...
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| Vydáno v: | Neurotherapeutics |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer New York
2008
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4514705/ https://ncbi.nlm.nih.gov/pubmed/19019316 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nurt.2008.08.005 |
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