Academic Journal
Προβολή σε EDS

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Συγγραφείς: Fusto, Aurora, Cassandrini, Denise, Fiorillo, Chiara, Codemo, Valentina, Astrea, Guja, D'Amico, Adele, Maggi, Lorenzo, Magri, Francesca, Pane, Marika, Tasca, Giorgio, Sabbatini, Daniele, Bello, Luca, Battini, Roberta, Bernasconi, Pia, Fattori, Fabiana, Bertini, Enrico Silvio, Comi, Giacomo, Messina, Sonia, Mongini, Tiziana, Moroni, Isabella
Πηγή: Acta Neuropathologica Communications; 4/15/2022, Vol. 10 Issue 1, p1-20, 20p
Θεματικοί όροι: Muscle weakness, Muscle diseases, Ryanodine receptors, Structural bioinformatics, Symptoms, Missense mutation
Περίληψη: Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myopathy (cores and minicores) for RYR1 mutation. At least one RYR1 mutation was identified in 69 of them and these patients were further studied. Clinical and histopathological features were collected. Clinical phenotype was highly heterogeneous ranging from asymptomatic or paucisymptomatic hyperCKemia to severe muscle weakness and skeletal deformity with loss of ambulation. Sixty-eight RYR1 mutations, generally missense, were identified, of which 16 were novel. The combined analysis of the clinical presentation, disease progression and the structural bioinformatic analyses of RYR1 allowed to associate some phenotypes to mutations in specific domains. In addition, this study highlighted the structural bioinformatics potential in the prediction of the pathogenicity of RYR1 mutations. Further improvement in the comprehension of genotype–phenotype relationship of core myopathies can be expected in the next future: the actual lack of the human RyR1 crystal structure paired with the presence of large intrinsically disordered regions in RyR1, and the frequent presence of more than one RYR1 mutation in core myopathy patients, require designing novel investigation strategies to completely address RyR1 mutation effect. [ABSTRACT FROM AUTHOR]
Copyright of Acta Neuropathologica Communications is the property of BioMed Central and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Βάση Δεδομένων: Complementary Index
FullText Text:
  Availability: 0
CustomLinks:
  – Url: https://resolver.ebsco.com/c/fiv2js/result?sid=EBSCO:edb&genre=article&issn=20515960&ISBN=&volume=10&issue=1&date=20220415&spage=1&pages=1-20&title=Acta Neuropathologica Communications&atitle=Expanding%20the%20clinical-pathological%20and%20genetic%20spectrum%20of%20RYR1-related%20congenital%20myopathies%20with%20cores%20and%20minicores%3A%20an%20Italian%20population%20study.&aulast=Fusto%2C%20Aurora&id=DOI:10.1186/s40478-022-01357-0
    Name: Full Text Finder (for New FTF UI) (ns324271)
    Category: fullText
    Text: Full Text Finder
    MouseOverText: Full Text Finder
Header DbId: edb
DbLabel: Complementary Index
An: 156376512
RelevancyScore: 916
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 915.920104980469
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Fusto%2C+Aurora%22">Fusto, Aurora</searchLink><br /><searchLink fieldCode="AR" term="%22Cassandrini%2C+Denise%22">Cassandrini, Denise</searchLink><br /><searchLink fieldCode="AR" term="%22Fiorillo%2C+Chiara%22">Fiorillo, Chiara</searchLink><br /><searchLink fieldCode="AR" term="%22Codemo%2C+Valentina%22">Codemo, Valentina</searchLink><br /><searchLink fieldCode="AR" term="%22Astrea%2C+Guja%22">Astrea, Guja</searchLink><br /><searchLink fieldCode="AR" term="%22D'Amico%2C+Adele%22">D'Amico, Adele</searchLink><br /><searchLink fieldCode="AR" term="%22Maggi%2C+Lorenzo%22">Maggi, Lorenzo</searchLink><br /><searchLink fieldCode="AR" term="%22Magri%2C+Francesca%22">Magri, Francesca</searchLink><br /><searchLink fieldCode="AR" term="%22Pane%2C+Marika%22">Pane, Marika</searchLink><br /><searchLink fieldCode="AR" term="%22Tasca%2C+Giorgio%22">Tasca, Giorgio</searchLink><br /><searchLink fieldCode="AR" term="%22Sabbatini%2C+Daniele%22">Sabbatini, Daniele</searchLink><br /><searchLink fieldCode="AR" term="%22Bello%2C+Luca%22">Bello, Luca</searchLink><br /><searchLink fieldCode="AR" term="%22Battini%2C+Roberta%22">Battini, Roberta</searchLink><br /><searchLink fieldCode="AR" term="%22Bernasconi%2C+Pia%22">Bernasconi, Pia</searchLink><br /><searchLink fieldCode="AR" term="%22Fattori%2C+Fabiana%22">Fattori, Fabiana</searchLink><br /><searchLink fieldCode="AR" term="%22Bertini%2C+Enrico+Silvio%22">Bertini, Enrico Silvio</searchLink><br /><searchLink fieldCode="AR" term="%22Comi%2C+Giacomo%22">Comi, Giacomo</searchLink><br /><searchLink fieldCode="AR" term="%22Messina%2C+Sonia%22">Messina, Sonia</searchLink><br /><searchLink fieldCode="AR" term="%22Mongini%2C+Tiziana%22">Mongini, Tiziana</searchLink><br /><searchLink fieldCode="AR" term="%22Moroni%2C+Isabella%22">Moroni, Isabella</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: Acta Neuropathologica Communications; 4/15/2022, Vol. 10 Issue 1, p1-20, 20p
– Name: Subject
  Label: Subject Terms
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Muscle+weakness%22">Muscle weakness</searchLink><br /><searchLink fieldCode="DE" term="%22Muscle+diseases%22">Muscle diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Ryanodine+receptors%22">Ryanodine receptors</searchLink><br /><searchLink fieldCode="DE" term="%22Structural+bioinformatics%22">Structural bioinformatics</searchLink><br /><searchLink fieldCode="DE" term="%22Symptoms%22">Symptoms</searchLink><br /><searchLink fieldCode="DE" term="%22Missense+mutation%22">Missense mutation</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myopathy (cores and minicores) for RYR1 mutation. At least one RYR1 mutation was identified in 69 of them and these patients were further studied. Clinical and histopathological features were collected. Clinical phenotype was highly heterogeneous ranging from asymptomatic or paucisymptomatic hyperCKemia to severe muscle weakness and skeletal deformity with loss of ambulation. Sixty-eight RYR1 mutations, generally missense, were identified, of which 16 were novel. The combined analysis of the clinical presentation, disease progression and the structural bioinformatic analyses of RYR1 allowed to associate some phenotypes to mutations in specific domains. In addition, this study highlighted the structural bioinformatics potential in the prediction of the pathogenicity of RYR1 mutations. Further improvement in the comprehension of genotype–phenotype relationship of core myopathies can be expected in the next future: the actual lack of the human RyR1 crystal structure paired with the presence of large intrinsically disordered regions in RyR1, and the frequent presence of more than one RYR1 mutation in core myopathy patients, require designing novel investigation strategies to completely address RyR1 mutation effect. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label:
  Group: Ab
  Data: <i>Copyright of Acta Neuropathologica Communications is the property of BioMed Central and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=edb&AN=156376512
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1186/s40478-022-01357-0
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 20
        StartPage: 1
    Subjects:
      – SubjectFull: Muscle weakness
        Type: general
      – SubjectFull: Muscle diseases
        Type: general
      – SubjectFull: Ryanodine receptors
        Type: general
      – SubjectFull: Structural bioinformatics
        Type: general
      – SubjectFull: Symptoms
        Type: general
      – SubjectFull: Missense mutation
        Type: general
    Titles:
      – TitleFull: Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Fusto, Aurora
      – PersonEntity:
          Name:
            NameFull: Cassandrini, Denise
      – PersonEntity:
          Name:
            NameFull: Fiorillo, Chiara
      – PersonEntity:
          Name:
            NameFull: Codemo, Valentina
      – PersonEntity:
          Name:
            NameFull: Astrea, Guja
      – PersonEntity:
          Name:
            NameFull: D'Amico, Adele
      – PersonEntity:
          Name:
            NameFull: Maggi, Lorenzo
      – PersonEntity:
          Name:
            NameFull: Magri, Francesca
      – PersonEntity:
          Name:
            NameFull: Pane, Marika
      – PersonEntity:
          Name:
            NameFull: Tasca, Giorgio
      – PersonEntity:
          Name:
            NameFull: Sabbatini, Daniele
      – PersonEntity:
          Name:
            NameFull: Bello, Luca
      – PersonEntity:
          Name:
            NameFull: Battini, Roberta
      – PersonEntity:
          Name:
            NameFull: Bernasconi, Pia
      – PersonEntity:
          Name:
            NameFull: Fattori, Fabiana
      – PersonEntity:
          Name:
            NameFull: Bertini, Enrico Silvio
      – PersonEntity:
          Name:
            NameFull: Comi, Giacomo
      – PersonEntity:
          Name:
            NameFull: Messina, Sonia
      – PersonEntity:
          Name:
            NameFull: Mongini, Tiziana
      – PersonEntity:
          Name:
            NameFull: Moroni, Isabella
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 15
              M: 04
              Text: 4/15/2022
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-print
              Value: 20515960
          Numbering:
            – Type: volume
              Value: 10
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Acta Neuropathologica Communications
              Type: main
ResultId 1