Skip to main content
NCBI home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1979 Jun;42(6):548–556. doi: 10.1136/jnnp.42.6.548

Centronuclear myopathy.

P L Bill, G Cole, N S Proctor
PMCID: PMC490260  PMID: 469562

Abstract

Centronuclear myopathy occurring sporadically in two African female children is reported, with details of clinical history and histological, histochemical, and ultrastructural findings, and a review of 58 previously reported cases. In spite of distinctive histological features, the clinical presentation of this condition is variable, there are different modes of inheritance, and the pathogenesis remains unclear.

Full text

PDF
548

Images in this article

552Image
on p.552
552Image
on p.552
552Image
on p.552
548Image
on p.548
549Image
on p.549
549Image
on p.549
551Image
on p.551
551Image
on p.551
553Image
on p.553
554Image
on p.554
554Image
on p.554

Selected References

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

  1. Badurska B., Fidziańska A., Kamieniecka Z., Prot J., Strugalska H. Myotubular myopathy. J Neurol Sci. 1969 May-Jun;8(3):563–571. doi: 10.1016/0022-510x(69)90014-8. [DOI] [PubMed] [Google Scholar]
  2. Barth P. G., Van Wijngaarden G. K., Bethlem J. X-linked myotubular myopathy with fatal neonatal asphyxia. Neurology. 1975 Jun;25(6):531–536. doi: 10.1212/wnl.25.6.531. [DOI] [PubMed] [Google Scholar]
  3. Bethlem J., Meijer A. E., Schellens J. P., Vroom J. J. Centronuclear myopathy. Eur Neurol. 1968;1(6):325–333. doi: 10.1159/000113672. [DOI] [PubMed] [Google Scholar]
  4. 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]
  5. 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]
  6. 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]
  7. Harriman D. G., Haleem M. A. Centronuclear myopathy in old age. J Pathol. 1972 Nov;108(3):237–247. doi: 10.1002/path.1711080309. [DOI] [PubMed] [Google Scholar]
  8. Headington J. T., McNamara J. O., Brownell A. K. Centronuclear myopathy: histochemistry and electron microscopy. Report of two cases. Arch Pathol. 1975 Jan;99(1):16–24. [PubMed] [Google Scholar]
  9. Karpati G., Carpenter S., Nelson R. F. Type I muscle fibre atrophy and central nuclei. A rare familial neuromuscular disease. J Neurol Sci. 1970 May;10(5):489–500. doi: 10.1016/0022-510x(70)90027-4. [DOI] [PubMed] [Google Scholar]
  10. McLeod J. G., Baker W. de C., Lethlean A. K., Shorey C. D. Centronuclear myopathy with autosomal dominant inheritance. J Neurol Sci. 1972 Apr;15(4):375–387. doi: 10.1016/0022-510x(72)90166-9. [DOI] [PubMed] [Google Scholar]
  11. 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]
  12. Schochet S. S., Jr, Zellweger H., Ionasescu V., McCormick W. F. Centronuclear myopathy: disease entity or a syndrome? Light- and electron-microscopic study of two cases and review of the literature. J Neurol Sci. 1972 Jun;16(2):215–228. doi: 10.1016/0022-510x(72)90091-3. [DOI] [PubMed] [Google Scholar]
  13. 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]
  14. 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]
  15. Vital C., Vallat J. M., Martin F., Le Blanc M., Bergouignan M. Etude clinique et ultrastructurale d'un cas de myopathie centronucléaire (myotubular myopathy) de l'adulte. Rev Neurol (Paris) 1970 Aug;123(2):117–130. [PubMed] [Google Scholar]
  16. 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