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

Detalhes bibliográficos
Autor(a) principal: Duarte, ST
Data de Publicação: 2011
Outros Autores: Oliveira, J, Santos, R, Pereira, P, Barroso, C, Conceição, I, Evangelista, T
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/2506
Resumo: 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.
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spelling Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle SymptomsAdultAgedDeltoid MuscleFemaleGenes, DominantGenes, RecessiveHumansMaleMalignant HyperthermiaMiddle AgedMuscular DiseasesMutationMyopathy, Central CorePedigreeRyanodine Receptor Calcium Release ChannelYoung AdultHDE NEU PEDINTRODUCTION: 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.Wiley Periodicals, Inc.Repositório do Centro Hospitalar Universitário de Lisboa Central, EPEDuarte, STOliveira, JSantos, RPereira, PBarroso, CConceição, IEvangelista, T2016-05-24T14:46:58Z2011-072011-07-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/2506engMuscle Nerve. 2011 Jul;44(1):102-810.1002/mus.22009info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:37:55Zoai:repositorio.chlc.min-saude.pt:10400.17/2506Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:19:51.363128Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms
title Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms
spellingShingle Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms
Duarte, ST
Adult
Aged
Deltoid Muscle
Female
Genes, Dominant
Genes, Recessive
Humans
Male
Malignant Hyperthermia
Middle Aged
Muscular Diseases
Mutation
Myopathy, Central Core
Pedigree
Ryanodine Receptor Calcium Release Channel
Young Adult
HDE NEU PED
title_short Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms
title_full Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms
title_fullStr Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms
title_full_unstemmed Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms
title_sort Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle Symptoms
author Duarte, ST
author_facet Duarte, ST
Oliveira, J
Santos, R
Pereira, P
Barroso, C
Conceição, I
Evangelista, T
author_role author
author2 Oliveira, J
Santos, R
Pereira, P
Barroso, C
Conceição, I
Evangelista, T
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Duarte, ST
Oliveira, J
Santos, R
Pereira, P
Barroso, C
Conceição, I
Evangelista, T
dc.subject.por.fl_str_mv Adult
Aged
Deltoid Muscle
Female
Genes, Dominant
Genes, Recessive
Humans
Male
Malignant Hyperthermia
Middle Aged
Muscular Diseases
Mutation
Myopathy, Central Core
Pedigree
Ryanodine Receptor Calcium Release Channel
Young Adult
HDE NEU PED
topic Adult
Aged
Deltoid Muscle
Female
Genes, Dominant
Genes, Recessive
Humans
Male
Malignant Hyperthermia
Middle Aged
Muscular Diseases
Mutation
Myopathy, Central Core
Pedigree
Ryanodine Receptor Calcium Release Channel
Young Adult
HDE NEU PED
description 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.
publishDate 2011
dc.date.none.fl_str_mv 2011-07
2011-07-01T00:00:00Z
2016-05-24T14:46:58Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.17/2506
url http://hdl.handle.net/10400.17/2506
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Muscle Nerve. 2011 Jul;44(1):102-8
10.1002/mus.22009
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wiley Periodicals, Inc.
publisher.none.fl_str_mv Wiley Periodicals, Inc.
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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