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Sökning: WFRF:(Tjust Anton E.) > (2015-2019) > Ryanodine receptor ...

  • Nilipour, YaldaMofid Children Hospital, Shahid Beheshti University of Medical Sciences, Iran (författare)

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies

  • Artikel/kapitelEngelska2018

Förlag, utgivningsår, omfång ...

  • 2018-03-26
  • Blackwell Publishing,2018
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:his-14955
  • https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-14955URI
  • https://doi.org/10.1111/ene.13607DOI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-146323URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • © 2018 EAN
  • Background: Nemaline myopathy has been associated with mutations in twelve genes to date. However, for some patients diagnosed with nemaline myopathy, definitive mutations are not identified in the known genes, suggesting there are other genes involved. This study describes compound heterozygosity for rare variants in RYR3 in one such patient.Results: Clinical examination of the patient at 22 years of age revealed a long-narrow face, high arched palate and bilateral facial weakness. She had proximal weakness in all four limbs, mild scapular winging but no scoliosis. Muscle biopsy revealed wide variation in fibre size with type 1 fibre predominance and atrophy. Abundant nemaline bodies were located in perinuclear areas, subsarcolemmal and within the cytoplasm. No likely pathogenic mutations in known nemaline myopathy genes were identified. Copy number variation in known nemaline myopathy genes was excluded by nemaline myopathy targeted array-CGH. Next generation sequencing revealed compound heterozygous missense variants in the ryanodine receptor type 3 gene (RYR3).  RYR3 transcripts are expressed in human fetal and adult skeletal muscle as well as in human brain or cauda equina samples. Immunofluorescence of human skeletal muscle revealed a "single-row" appearance of RYR3, interspaced between the "double-rows" of RYR1 at each A-I junction.Conclusion: The results suggest that variants in RYR3 may cause a recessive muscle disease with pathological features including nemaline bodies. We characterize the expression pattern of RYR3 in human skeletal muscle and brain and the subcellular localization of RYR1 and RYR3 in human skeletal muscle.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Nafissi, ShahriarTehran University of Medical Sciences, Iran (författare)
  • Tjust, Anton E.Umeå universitet,Institutionen för integrativ medicinsk biologi (IMB),Oftalmiatrik,Umeå University, Sweden(Swepub:umu)antj0003 (författare)
  • Ravenscroft, GianinaThe University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia (författare)
  • Hossein-Nejad Nedai, HamidShahid Beheshti University of Medical Sciences, Iran (författare)
  • Taylor, Rhonda L.The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia (författare)
  • Varasteh, VahidShahid Beheshti University of Medical Sciences, Iran (författare)
  • Pedrosa Domellöf, FatimaUmeå universitet,Institutionen för integrativ medicinsk biologi (IMB),Oftalmiatrik,Umeå University, Sweden(Swepub:umu)fape0001 (författare)
  • Zangi, MahdiNational Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Iran (författare)
  • Tonekaboni, Seyed HassanMofid Children Hospital, Shahid Beheshti University of Medical Sciences, Iran (författare)
  • Olivé, M.IDIBELL-Hospital de Bellvitge, Barcelona, Spain (författare)
  • Kiiski, KirsiFolkhälsan Institute of Genetics, Medicum, University of Helsinki, Finland (författare)
  • Sagath, L.Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Finland (författare)
  • Davis, Mark R.Pathwest, QEII Medical Centre, Nedlands, Western Australia (författare)
  • Laing, Nigel G.The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia (författare)
  • Tajsharghi, HomaHögskolan i Skövde,Institutionen för hälsa och lärande,Forskningsspecialiseringen Hälsa och Lärande,The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia,Biomedical Genetics / Translational Medicine (TRIM)(Swepub:his)tajh (författare)
  • Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, IranTehran University of Medical Sciences, Iran (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:European Journal of Neurology: Blackwell Publishing25:6, s. 841-8471351-51011468-1331

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