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Intrafamily phenotypic heterogeneity in a large Thai slow-channel-syndrome kinship
The slow-channel congenital myasthenic syndrome (SCCMS) is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor (AChR). We here report our clinical findings in three generation of a large Thai kinship suffering from a SCCMS and trace th...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3327811/ https://ncbi.nlm.nih.gov/pubmed/21316238 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2010.12.006 |
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