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Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

Tajsharghi, Homa (författare)
Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden
Hammans, Simon (författare)
Wessex Neurological Centre, Southampton General Hospital, Southampton, UK
Lindberg, Christopher (författare)
Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering,Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation,Department of Neurology, Institute of Neuroscience and Physiology, University of Gothenburg, Sahlgrenska Hospital, Gothenburg, Sweden
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Lossos, Alexander (författare)
Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Clarke, Nigel F. (författare)
Institute for Neuromuscular Research, Children’s Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia
Mazanti, Ingrid (författare)
Cellular Pathology, Southampton General Hospital, Southampton, UK
Waddell, Leigh B. (författare)
Institute for Neuromuscular Research, Children’s Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia
Fellig, Yakov (författare)
Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Foulds, Nicola (författare)
Wessex Clinical Genetics Services, UHS NHS Foundation Trust, Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK
Katifi, Haider (författare)
Wessex Neurological Centre, Southampton General Hospital, Southampton, UK
Webster, Richard (författare)
Department of Neurology, Children’s Hospital at Westmead, Sydney, New South Wales, Australia
Raheem, Olayinka (författare)
Neuromuscular Research Unit, Tampere University and Hospital, Tampere, Finland
Udd, Bjarne (författare)
Neuromuscular Research Unit, Tampere University and Hospital, Tampere, Finland / Department of Neurology, Vasa Central Hospital, Vasa, Finland / Department of Medical Genetics, Folkhälsan Genetic Institute, Helsinki University, Helsinki, Finland
Argov, Zohar (författare)
Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Oldfors, Anders, 1951 (författare)
Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden
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 (creator_code:org_t)
2013-11-06
2014
Engelska.
Ingår i: European Journal of Human Genetics. - : Nature Publishing Group. - 1018-4813 .- 1476-5438. ; 22:6, s. 801-808
Relaterad länk:
https://www.nature.c...
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https://urn.kb.se/re...
https://doi.org/10.1...
https://gup.ub.gu.se...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Myosin myopathies comprise a group of inherited diseases caused by mutations in myosin heavy chain (MyHC) genes. Homozygous or compound heterozygous truncating MYH2 mutations have been demonstrated to cause recessive myopathy with ophthalmoplegia, mild-to-moderate muscle weakness and complete lack of type 2A muscle fibers. In this study, we describe for the first time the clinical and morphological characteristics of recessive myosin IIa myopathy associated with MYH2 missense mutations. Seven patients of five different families with a myopathy characterized by ophthalmoplegia and mild-to-moderate muscle weakness were investigated. Muscle biopsy was performed to study morphological changes and MyHC isoform expression. Five of the patients were homozygous for MYH2 missense mutations, one patient was compound heterozygous for a missense and a nonsense mutation and one patient was homozygous for a frame-shift MYH2 mutation. Muscle biopsy demonstrated small or absent type 2A muscle fibers and reduced or absent expression of the corresponding MyHC IIa transcript and protein. We conclude that mild muscle weakness and ophthalmoplegia in combination with muscle biopsy demonstrating small or absent type 2A muscle fibers are the hallmark of recessive myopathy associated with MYH2 mutations.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Neurologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Neurology (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine (hsv//eng)

Nyckelord

Myosin heavy chain
MYH2
ophthalmoplegia
myosin myopathy
Medical sciences
Medicin
Myosin heavy chain; MYH2; ophthalmoplegia; myosin myopathy

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