Skip to main content
PMC home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1993 Jun;56(6):644–648. doi: 10.1136/jnnp.56.6.644

Familial desminopathy: myopathy with accumulation of desmin-type intermediate filaments.

J Vajsar 1, L E Becker 1, R M Freedom 1, E G Murphy 1
PMCID: PMC489614  PMID: 8509778

Abstract

Two siblings developed cardiomyopathy several years before slowly progressive muscle weakness. Skeletal muscle biopsy specimens showed subsarcolemmal crescents of dark eosinophilic material in both type I and type II fibres. Immunohistochemically the subsarcolemmal material stained positively for the intermediate filament protein desmin and for the heat shock protein ubiquitin but for no other cytoskeletal proteins. Ultrastructurally the subsarcolemmal deposits consisted of aggregates of granular and filamentous material arising from Z-bands. Follow up muscle biopsies six years later showed an increased number of the muscle fibres that contained subsarcolemmal aggregates that stained positively for desmin and ubiquitin. These clinical and pathological features characterise a rare familial myopathy associated with an unusual distribution of desmin intermediate filament proteins in skeletal and probably also cardiac muscle.

Full text

PDF
648

Images in this article

645Image
on p.645
646Image
on p.646
646Image
on p.646
646Image
on p.646
647Image
on p.647

Selected References

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

  1. Calderon A., Becker L. E., Murphy E. G. Subsarcolemmal vermiform deposits in skeletal muscle, associated with familial cardiomyopathy: report of two cases of a new entity. Pediatr Neurosci. 1987;13(2):108–112. doi: 10.1159/000120312. [DOI] [PubMed] [Google Scholar]
  2. Edström L., Thornell L. E., Eriksson A. A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J Neurol Sci. 1980 Aug;47(2):171–190. doi: 10.1016/0022-510x(80)90002-7. [DOI] [PubMed] [Google Scholar]
  3. Fardeau M., Godet-Guillain J., Tome F. M., Collin H., Gaudeau S., Boffety C., Vernant P. Une nouvelle affection musculaire familiale, définie par l'accumulation intra-sarco-plasmique d'un matériel granulo-filamentaire dense en microscopie électronique. Rev Neurol (Paris) 1978 Jun-Jul;134(6-7):411–425. [PubMed] [Google Scholar]
  4. Goebel H. H., Lenard H. G., Langenbeck U., Mehl B. A form of congenital muscular dystrophy. Brain Dev. 1980;2(4):387–400. doi: 10.1016/s0387-7604(80)80052-0. [DOI] [PubMed] [Google Scholar]
  5. Granger B. L., Lazarides E. The existence of an insoluble Z disc scaffold in chicken skeletal muscle. Cell. 1978 Dec;15(4):1253–1268. doi: 10.1016/0092-8674(78)90051-x. [DOI] [PubMed] [Google Scholar]
  6. Jakobsson F., Borg K., Edström L. Fibre-type composition, structure and cytoskeletal protein location of fibres in anterior tibial muscle. Comparison between young adults and physically active aged humans. Acta Neuropathol. 1990;80(5):459–468. doi: 10.1007/BF00294604. [DOI] [PubMed] [Google Scholar]
  7. Lowe J., Blanchard A., Morrell K., Lennox G., Reynolds L., Billett M., Landon M., Mayer R. J. Ubiquitin is a common factor in intermediate filament inclusion bodies of diverse type in man, including those of Parkinson's disease, Pick's disease, and Alzheimer's disease, as well as Rosenthal fibres in cerebellar astrocytomas, cytoplasmic bodies in muscle, and mallory bodies in alcoholic liver disease. J Pathol. 1988 May;155(1):9–15. doi: 10.1002/path.1711550105. [DOI] [PubMed] [Google Scholar]
  8. Pellissier J. F., Pouget J., Charpin C., Figarella D. Myopathy associated with desmin type intermediate filaments. An immunoelectron microscopic study. J Neurol Sci. 1989 Jan;89(1):49–61. doi: 10.1016/0022-510x(89)90006-3. [DOI] [PubMed] [Google Scholar]
  9. Sarnat H. B. Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. Can J Neurol Sci. 1990 May;17(2):109–123. doi: 10.1017/s0317167100030304. [DOI] [PubMed] [Google Scholar]
  10. Shafig S. A., Sande M. A., Carruthers R. R., Killip T., Milhorat A. T. Skeletal muscle in idiopathic cardiomyopathy. J Neurol Sci. 1972 Mar;15(3):303–320. doi: 10.1016/0022-510x(72)90072-x. [DOI] [PubMed] [Google Scholar]
  11. Steinert P. M., Roop D. R. Molecular and cellular biology of intermediate filaments. Annu Rev Biochem. 1988;57:593–625. doi: 10.1146/annurev.bi.57.070188.003113. [DOI] [PubMed] [Google Scholar]
  12. Tassin A. M., Pinçon-Raymond M., Paulin D., Rieger F. Unusual organization of desmin intermediate filaments in muscular dysgenesis and TTX-treated myotubes. Dev Biol. 1988 Sep;129(1):37–47. doi: 10.1016/0012-1606(88)90159-5. [DOI] [PubMed] [Google Scholar]
  13. Truong L. D., Rangdaeng S., Cagle P., Ro J. Y., Hawkins H., Font R. L. The diagnostic utility of desmin. A study of 584 cases and review of the literature. Am J Clin Pathol. 1990 Mar;93(3):305–314. doi: 10.1093/ajcp/93.3.305. [DOI] [PubMed] [Google Scholar]
  14. Viegas-Péquignot E., Li Z. L., Dutrillaux B., Apiou F., Paulin D. Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization. Hum Genet. 1989 Aug;83(1):33–36. doi: 10.1007/BF00274143. [DOI] [PubMed] [Google Scholar]

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

RESOURCES