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Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms

2011-07Journal article Open access
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dc.contributor.authorDuarte, ST
dc.contributor.authorOliveira, J
dc.contributor.authorSantos, R
dc.contributor.authorPereira, P
dc.contributor.authorBarroso, C
dc.contributor.authorConceição, I
dc.contributor.authorEvangelista, T
dc.date.accessioned2016-05-24T14:46:58Z
dc.date.available2016-05-24T14:46:58Z
dc.date.issued2011-07
dc.description.abstractINTRODUCTION: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH). METHODS: Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and MmD with adult onset were also reviewed. RESULTS: Eight patients fulfilled the criteria for further analysis. Five RYR1 mutations, 4 of them unreported, were detected in 3 patients. Compound heterozygosity was proven in 1 case. CONCLUSIONS: To our knowledge, this is the only report of adult onset associated with recessive RYR1 mutations and central core/multiminicores on muscle biopsy. Although adult patients with CCD, MmD, and minimally symptomatic MH with abnormal muscle biopsy findings usually have a mild clinical course, differential diagnosis and carrier screening is crucial for prevention of potentially life-threatening reactions to general anesthesia.pt_PT
dc.identifier.citationMuscle Nerve. 2011 Jul;44(1):102-8pt_PT
dc.identifier.doi10.1002/mus.22009pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2506
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWiley Periodicals, Inc.pt_PT
dc.subjectAdultpt_PT
dc.subjectAgedpt_PT
dc.subjectDeltoid Musclept_PT
dc.subjectFemalept_PT
dc.subjectGenes, Dominantpt_PT
dc.subjectGenes, Recessivept_PT
dc.subjectHumanspt_PT
dc.subjectMalept_PT
dc.subjectMalignant Hyperthermiapt_PT
dc.subjectMiddle Agedpt_PT
dc.subjectMuscular Diseasespt_PT
dc.subjectMutationpt_PT
dc.subjectMyopathy, Central Corept_PT
dc.subjectPedigreept_PT
dc.subjectRyanodine Receptor Calcium Release Channelpt_PT
dc.subjectYoung Adultpt_PT
dc.subjectHDE NEU PEDpt_PT
dc.titleDominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptomspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage108pt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage102pt_PT
oaire.citation.titleMuscle & nervept_PT
oaire.citation.volume44pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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