Skip to main content

Familial x-linked centronuclear myopathy

Irish Journal of Medical Science volume 155, pages 394–396 (1986)Cite this article

Summary

The clinical and neurological findings in two siblings who died with congenital centronuclear myopathy are described. Family history indicates that this disorder was probably inherited in an X-linked recession fashion. Details of investigations on other family members are described.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

43,34 €

Price includes VAT (Finland)
Tax calculation will be finalised during checkout.

References

  • Barth, P. G. Van, Winjgaarden, G. K., Bethlem, J. 1975. X-linked myotubular myopathy with fatal neonatal asphyxia. Neurology 25, 531.

    PubMed  CAS  Google Scholar 

  • Bruyland, M., Liebaers, I., Sacre, L. 1984. Neonatal myotubular myopathy with a probably X-linked inheritance: observations on a new family with a review of the literature. Bel. J. Neurol. 231/4, 220.

    Article  CAS  Google Scholar 

  • Fardeau, M. 1982. Congenital Myopathies in Skeletal Muscle Pathology. Ed. by Mastaglia, F. L., Walton, J. London. Churchill-Livingstone: 25.

    Google Scholar 

  • Harrison, D. G. F., Haleem, M. A. 1972. Centronuclear myopathy in old age. J. Pathol. 108, 237.

    Article  Google Scholar 

  • Raju, T. N. K., Vidyasagen, D., Reyes, M. G., Crokroverty, S. 1977. Centronuclear myopathy in the newborn period causing severe respiratory distress. Paediatrics 59, 29.

    CAS  Google Scholar 

  • Spiro, A. J., Shy, G. M., Ganatas, N. K. 1966. Myotubular myopathy. Arch Neurol (Chic.) 14, 1.

    CAS  Google Scholar 

  • Van Winjgaarden, G. K., Fleury, P., Bethlem, J., Meijer, A. E. F. H. 1969. Familial myotubular myopathy. Neurology 19, 901.

    Google Scholar 

  • Volpe, J. J. 1981. Neurology of the Newborn. Philadelphia. Saunders. 470.

    Google Scholar 

Download references

Author information

Affiliations

  1. Our Lady’s Hospital for Sick Children, Crumlin, Dublin

    M. Quinn, J. McMenamin, J. Dinn, E. Griffin & J. Cosgrove

  2. Ardkeen Hospital, Waterford

    M. Quinn, J. McMenamin, J. Dinn, E. Griffin & J. Cosgrove

  3. Paediatric Registrar, Alder Hey Children’s Hospital, Eaton Road, L12 2AP, West Derby, Liverpool

    M. Quinn

Authors
  1. M. Quinn
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J. McMenamin
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. J. Dinn
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. E. Griffin
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. Cosgrove
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Quinn, M., McMenamin, J., Dinn, J. et al. Familial x-linked centronuclear myopathy. I.J.M.S. 155, 394–396 (1986). https://doi.org/10.1007/BF02940536

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02940536

Keywords

  • Myopathy
  • Muscle Biopsy
  • Pyloric Stenosis
  • Hydroxy Progesterone
  • Polyhydramnios