Congenital myasthenic syndrome due to dok7 mutations in a family from chile

dc.date.accessioned2018-12-07T13:33:44Z
dc.date.accessioned2022-10-18T21:59:58Z
dc.date.available2018-12-07T13:33:44Z
dc.date.available2022-10-18T21:59:58Z
dc.date.created2018-12-07T13:33:44Z
dc.date.issued2017
dc.identifierhttp://hdl.handle.net/10533/232697
dc.identifier1151383
dc.identifierWOS:000416713900006
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/4464052
dc.description.abstractCongenital 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
dc.languageeng
dc.relationhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5658635/
dc.relationhandle/10533/111557
dc.relation10.4081/ejtm.2017.6832
dc.relationhandle/10533/111541
dc.relationhandle/10533/108045
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 Chile
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/
dc.titleCongenital myasthenic syndrome due to dok7 mutations in a family from chile
dc.typeArticulo


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