his.sePublications
Change search
Refine search result
1 - 2 of 2
CiteExportLink to result list
Permanent link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Rows per page
  • 5
  • 10
  • 20
  • 50
  • 100
  • 250
Sort
  • Standard (Relevance)
  • Author A-Ö
  • Author Ö-A
  • Title A-Ö
  • Title Ö-A
  • Publication type A-Ö
  • Publication type Ö-A
  • Issued (Oldest first)
  • Issued (Newest first)
  • Created (Oldest first)
  • Created (Newest first)
  • Last updated (Oldest first)
  • Last updated (Newest first)
  • Disputation date (earliest first)
  • Disputation date (latest first)
  • Standard (Relevance)
  • Author A-Ö
  • Author Ö-A
  • Title A-Ö
  • Title Ö-A
  • Publication type A-Ö
  • Publication type Ö-A
  • Issued (Oldest first)
  • Issued (Newest first)
  • Created (Oldest first)
  • Created (Newest first)
  • Last updated (Oldest first)
  • Last updated (Newest first)
  • Disputation date (earliest first)
  • Disputation date (latest first)
Select
The maximal number of hits you can export is 250. When you want to export more records please use the Create feeds function.
  • 1.
    Tajsharghi, Homa
    et al.
    Departments of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Darin, Niklas
    Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Rekabdar, Elham
    Departments of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Kyllerman, Mårten
    Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Wahlström, Jan
    Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Martinsson, Tommy
    Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.
    Oldfors, Anders
    Departments of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
    Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2)2005In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 13, no 5, p. 617-622Article in journal (Refereed)
    Abstract [en]

    We recently described a new autosomal dominant myopathy associated with a missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2). In this study, we performed mutation analysis of MYH2 in eight Swedish patients with familial myopathy of unknown cause. In two of the eight index cases, we identified novel heterozygous missense mutations in MYH2, one in each case: V970I and L1061V. The mutations were located in subfragment 2 of the MyHC and they changed highly conserved residues. Most family members carrying the mutations had signs and symptoms consisting mainly of mild muscle weakness and myalgia. In addition, we analyzed the extent and distribution of nucleotide variation in MYH2 in 50 blood donors, who served as controls, by the complete sequencing of all 38 exons comprising the coding region. We identified only six polymorphic sites, five of which were synonymous polymorphisms. One variant, which occurred at an allele frequency of 0.01, was identical to the L1061V that was also found in one of the families with myopathy. The results of the analysis of normal variation indicate that there is strong selective pressure against mutations in MYH2. On the basis of these results, we suggest that MyHC genes should be regarded as candidate genes in cases of hereditary myopathies of unknown etiology.

  • 2.
    Tajsharghi, Homa
    et al.
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
    Hammans, Simon
    Wessex Neurological Centre, Southampton General Hospital, Southampton, UK.
    Lindberg, Christopher
    Department of Neurology, Institute of Neuroscience and Physiology, University of Gothenburg, Sahlgrenska Hospital, Gothenburg, Sweden.
    Lossos, Alexander
    Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Clarke, Nigel F.
    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
    Cellular Pathology, Southampton General Hospital, Southampton, UK.
    Waddell, Leigh B.
    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
    Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Foulds, Nicola
    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
    Wessex Neurological Centre, Southampton General Hospital, Southampton, UK.
    Webster, Richard
    Department of Neurology, Children’s Hospital at Westmead, Sydney, New South Wales, Australia.
    Raheem, Olayinka
    Neuromuscular Research Unit, Tampere University and Hospital, Tampere, Finland.
    Udd, Bjarne
    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
    Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
    Oldfors, Anders
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
    Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations2014In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 22, no 6, p. 801-808Article in journal (Refereed)
    Abstract [en]

    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.

1 - 2 of 2
CiteExportLink to result list
Permanent link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf