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dc.contributor.authorEstephan, Eduardo de Paula
dc.contributor.authorZambon, Antonio Alberto
dc.contributor.authorMarchiori, Paulo Eurípedes
dc.contributor.authorda Silva, André Macedo Serafim
dc.contributor.authorCaldas, Vitor Marques
dc.contributor.authorMoreno, Cristiane Araújo Martins
dc.contributor.authorReed, Umbertina Conti
dc.contributor.authorHorvath, Rita
dc.contributor.authorTöpf, Ana
dc.contributor.authorLochmüller, Hanns
dc.contributor.authorZanoteli, Edmar
dc.date.accessioned2019-01-09T14:17:01Z
dc.date.available2019-01-09T14:17:01Z
dc.date.issued2018-11
dc.identifier.issn0960-8966
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/287729
dc.description.abstractMutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS), leading to endplate acetylcholine receptor deficiency. We present three RAPSN early-onset CMS patients (from a Brazilian cohort of 61 CMS patients). Patient 1 and patient 2 harbor the mutation p.N88K in homozygosity, while patient 3 harbors p.N88K in compound heterozygosity with another pathogenic variant (p.V165M; c.493G ≥ A). At onset, patient 3 presented with more severe symptoms compared to the other two, showing generalized weakness and repeated episodes of respiratory failure in the first years of life. During adolescence, she became gradually less symptomatic and does not require medication anymore, presenting better long-term outcomes than patients 1 and 2. This case series illustrates the variability of RAPSN early-onset CMS, with patient 3, despite severe onset, revealing an almost complete reversal of myasthenic symptoms, not limited to apneic episodes. Moreover, it suggests that RAPSN CMS may be underdiagnosed in non-European countries.
dc.format.mediumPrint-Electronic
dc.languageeng
dc.publisherElsevier BV
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectHumans
dc.subjectMyasthenic Syndromes, Congenital
dc.subjectDisease Progression
dc.subjectMuscle Proteins
dc.subjectDNA Mutational Analysis
dc.subjectPhenotype
dc.subjectMutation
dc.subjectAlleles
dc.subjectAdolescent
dc.subjectAdult
dc.subjectChild
dc.subjectBrazil
dc.subjectFemale
dc.subjectMale
dc.titleClinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil.
dc.typeArticle
prism.endingPage964
prism.issueIdentifier11
prism.publicationDate2018
prism.publicationNameNeuromuscul Disord
prism.startingPage961
prism.volume28
dc.identifier.doi10.17863/CAM.35044
dcterms.dateAccepted2018-08-22
rioxxterms.versionofrecord10.1016/j.nmd.2018.08.007
rioxxterms.versionAM
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2018-11
dc.contributor.orcidHorvath, Rita [0000-0002-9841-170X]
dc.identifier.eissn1873-2364
rioxxterms.typeJournal Article/Review
pubs.funder-project-idEuropean Commission (305121)
pubs.funder-project-idMedical Research Council (MR/N025431/2)
rioxxterms.freetoread.startdate2019-09-05


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Attribution-NonCommercial-NoDerivatives 4.0 International
Except where otherwise noted, this item's licence is described as Attribution-NonCommercial-NoDerivatives 4.0 International