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Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness, and scoliosis since childhood. Another female si...
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| Pubblicato in: | Eur J Transl Myol |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
PAGEPress Publications, Pavia, Italy
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5658635/ https://ncbi.nlm.nih.gov/pubmed/29118959 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4081/ejtm.2017.6832 |
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