Skip to main content
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1975 Aug;38(8):761–764. doi: 10.1136/jnnp.38.8.761

Myotubular myopathy associated with cataract and electrical myotonia.

C H Hawkes, M J Absolon
PMCID: PMC492068  PMID: 1185197

Abstract

A case of myotubular myopathy is described which is unusual because of bilateral cataracts and prominent myotonic-like discharges on the EMG. The significance of these findings is discussed in relation to dystrophia myotonica.

Full text

PDF
761

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bethlem J., van Wijngaarden G. K., Meijer A. E., Hülsmann W. C. Neuromuscular disease with type I fiber atrophy, central nuclei, and myotube-like structures. Neurology. 1969 Jul;19(7):705–710. doi: 10.1212/wnl.19.7.705. [DOI] [PubMed] [Google Scholar]
  2. Bethlem J., van Wijngaarden G. K., Mumenthaler M., Meijer A. E. Centronuclear myopathy with type I fiber atrophy and "myotubes". Arch Neurol. 1970 Jul;23(1):70–73. doi: 10.1001/archneur.1970.00480250074010. [DOI] [PubMed] [Google Scholar]
  3. Bradley W. G., Price D. L., Watanabe C. K. Familial centronuclear myopathy. J Neurol Neurosurg Psychiatry. 1970 Oct;33(5):687–693. doi: 10.1136/jnnp.33.5.687. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Campbell M. J., Rebeiz J. J., Walton J. N. Myotubular, centronuclear or Peri-Centronuclear myopathy? J Neurol Sci. 1969 May-Jun;8(3):425–443. doi: 10.1016/0022-510x(69)90003-3. [DOI] [PubMed] [Google Scholar]
  5. Engel W. K., Gold G. N., Karpati G. Type I fiber hypotrophy and central nuclei. A rare congenital muscle abnormality with a possible experimental model. Arch Neurol. 1968 Apr;18(4):435–444. doi: 10.1001/archneur.1968.00470340121011. [DOI] [PubMed] [Google Scholar]
  6. Munsat T. L., Thompson L. R., Coleman R. F. Centronuclear ("myotubular") myopathy. Arch Neurol. 1969 Feb;20(2):120–131. doi: 10.1001/archneur.1969.00480080020002. [DOI] [PubMed] [Google Scholar]
  7. Peter J. B., Andiman R. M., Bowman R. L., Nagatomo T. Myotonia induced by diazacholesterol: increased (Na+ + K+)-ATPase activity of erythrocyte ghosts and development of cataracts. Exp Neurol. 1973 Dec;41(3):738–744. doi: 10.1016/0014-4886(73)90064-2. [DOI] [PubMed] [Google Scholar]
  8. Sher J. H., Rimalovski A. B., Athanassiades T. J., Aronson S. M. Familial centronuclear myopathy: a clinical and pathological study. Neurology. 1967 Aug;17(8 Pt 1):727–742. doi: 10.1212/wnl.17.8.727. [DOI] [PubMed] [Google Scholar]
  9. Spiro A. J., Shy G. M., Gonatas N. K. Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch Neurol. 1966 Jan;14(1):1–14. doi: 10.1001/archneur.1966.00470070005001. [DOI] [PubMed] [Google Scholar]
  10. van Wijngaarden G. K., Fleury P., Bethlem J., Meijer A. E. Familial "myotubular" myopathy. Neurology. 1969 Sep;19(9):901–908. doi: 10.1212/wnl.19.9.901. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES