Skip to main content
Log in

Further investigations on benign myopathy with autosomal dominant inheritance

  • Short Communications
  • Published:
Journal of Neurology Aims and scope Submit manuscript

Summary

Six members of a family suffered from benign myopathy over four generations. The clinical, laboratory, electromyographic, histological and genetic data were consistent with benign myopathy with autosomal dominant inheritance. Congenital torticollis was a feature in one patient. Linkage studies revealed no linkage between the locus of this myopathy and the locus of any of 17 genetic markers investigated. This family was of Polish descent, which indicates a widespread occurrence of this benign hereditary myopathy. The data presented are a strong argument in favor of a specific new disease entity.

Zusammenfassung

In 4 Generationen einer Familie litten 6 Glieder an einer gutartigen Myopathie. Die klinischen Daten, Laboratoriumsbefunde, der elektromyographische und histologische Befund sowie die genetischen Besonderheiten waren mit der Annahme einer gutartigen Myopathie von autosomal dominantem Erbgang vereinbar. Bei einem Patienten lag ein angeborener Torticollis vor. Es ließ sich keine Koppelung zwischen dem Lokus dieser Myopathie und dem Lokus irgendeiner der 17 untersuchten genetischen Lokalisationen feststellen. Da die beschriebene Familie aus Polen stammte, weist dies auf die starke Verbreitung dieser gutartigen hereditären Myopathie hin. Die hier vorgelegten Elemente sprechen sehr für eine eigenständige neue Erkrankung.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Reference

  • Bethlem, J., van Wijngaarden, G. K.: Benign myopathy, with autosomal dominant inheritance — a report on three pedigrees. Brain 99, 91–100 (1976)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

Supported by a grant from the Princess Beatrix Foundation

Rights and permissions

Reprints and permissions

About this article

Cite this article

Arts, W.F., Bethlem, J. & Volkers, W.S. Further investigations on benign myopathy with autosomal dominant inheritance. J. Neurol. 217, 201–206 (1978). https://doi.org/10.1007/BF00312962

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00312962

Key words

Navigation