Publication
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms
| dc.contributor.author | Duarte, Sofia | |
| dc.contributor.author | Oliveira, Jorge | |
| dc.contributor.author | Santos, Rosário | |
| dc.contributor.author | Pereira, Pedro | |
| dc.contributor.author | Barroso, Cândida | |
| dc.contributor.author | Conceição, Isabel | |
| dc.contributor.author | Evangelista, Teresinha | |
| dc.date.accessioned | 2012-03-01T18:29:05Z | |
| dc.date.available | 2012-03-01T18:29:05Z | |
| dc.date.issued | 2011-07 | |
| dc.description.abstract | INTRODUCTION: 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. | por |
| dc.identifier.citation | Muscle Nerve. 2011 Jul;44(1):102-8 | por |
| dc.identifier.issn | 0148-639X | |
| dc.identifier.other | doi: 10.1002/mus.22009 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/710 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Wiley-Blackwell | por |
| dc.relation.publisherversion | http://onlinelibrary.wiley.com/doi/10.1002/mus.22009/abstract | por |
| dc.subject | RYR1 | por |
| dc.subject | Multiminicore Disease | por |
| dc.subject | Adult Presentation | por |
| dc.subject | Central Core Disease | por |
| dc.subject | Malignant Hyperthermia | por |
| dc.subject | Doenças Genéticas | por |
| dc.title | Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 108 | por |
| oaire.citation.startPage | 102 | por |
| oaire.citation.title | Muscle and Nerve | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |