Neuromuscular Disorders
Volume 17, Issue 6 , Pages 490-493 , June 2007

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation

  • S. Overeem

      Affiliations

    • Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    • Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    • Corresponding Author InformationCorresponding author. Address: Department of Neurology, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands. Tel.: +31 24 3615202, fax: +31 24 3541122.
    • ,
  • H.J. Schelhaas

      Affiliations

    • Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    • ,
  • P.J. Blijham

      Affiliations

    • Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    • Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    • ,
  • M.I. Grootscholten

      Affiliations

    • Department of Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    • ,
  • H.J. ter Laak

      Affiliations

    • Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    • Department of Pathology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    • ,
  • J. Timmermans

      Affiliations

    • Department of Cardiology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    • ,
  • A. van den Wijngaard

      Affiliations

    • Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands
    • ,
  • M.J. Zwarts

      Affiliations

    • Department of Clinical Neurophysiology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

Received 18 December 2006 ,Accepted 11 February 2007.

References 

  1. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104(4):557–567
  2. Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol. 2003;54(4):494–500
  3. Meredith C, Herrmann R, Parry C, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004;75(4):703–708
  4. Oldfors A, Tajsharghi H, Darin N, Lindberg C. Myopathies associated with myosin heavy chain mutations. Acta Myol. 2004;23(2):90–96
  5. Watkins H, Rosenzweig A, Hwang DS, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992;326(17):1108–1114
  6. Blijham PJ, ter Laak HJ, Schelhaas HJ, van Engelen BG, Stegeman DF, Zwarts MJ. Relation between muscle fiber conduction velocity and fiber size in neuromuscular disorders. J Appl Physiol. 2006;100(6):1837–1841
  7. Scholten RR, Pillen S, Verrips A, Zwarts MJ. Quantitative ultrasonography of skeletal muscles in children: normal values. Muscle Nerve. 2003;27(6):693–698
  8. Laing NG, Laing BA, Meredith C, et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet. 1995;56(2):422–427
  9. Laing NG, Ceuterick-de GC, Dye DE, et al. Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Neurology. 2005;64(3):527–529
  10. Fananapazir L, Dalakas MC, Cyran F, Cohn G, Epstein ND. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA. 1993;90(9):3993–3997
  11. Lamont PJ, Udd B, Mastaglia FL, et al. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy. J Neurol Neurosurg Psychiatry. 2006;77(2):208–215
  12. Geisterfer-Lowrance AA, Christe M, Conner DA, et al. A mouse model of familial hypertrophic cardiomyopathy. Science. 1996;272(5262):731–734
  13. Lim DS, Roberts R, Marian AJ. Expression profiling of cardiac genes in human hypertrophic cardiomyopathy: insight into the pathogenesis of phenotypes. J Am Coll Cardiol. 2001;38(4):1175–1180

☆ Disclosure: The authors have reported no conflicts of interest.

PII: S0960-8966(07)00051-X

doi: 10.1016/j.nmd.2007.02.007

Neuromuscular Disorders
Volume 17, Issue 6 , Pages 490-493 , June 2007

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