Nemaline Myopathy

Number 109
Date 11 October 2002

17 Doctors and scientists from 7 countries gathered in Naarden, The Netherlands from 11th - 13th October 2002 for the 5th ENMC Workshop on nemaline myopathy.

Considerable progress has been made in the research into nemaline myopathy during the 6 years since the 1st ENMC Workshop on this disease was held and the International Consortium was formed. The international collaboration has brought about an extensive exchange of samples, genetic markers and clinical and muscle biopsy data, allowing a co-ordinated approach to increasing our understanding of the disease.

5 Genes have to date been found causing various forms of this inherited muscle disorder. 2 Of these genes, actin and nebulin, appear to be relatively common causes of nemaline myopathy. Tropomyosin 3, tropomyosin 2 and troponin T1 however are eveidently rare causes of nemaline myopathy. Identifying the genes is the 1st step towards understanding the disease process in the various subgroups of nemaline myopathy. The protein products of the disease genes are now being analysed by various techniques to understand their effect in diseased muscle. Model systems have been developed in order to increase the understanding of the mechanisms of the disease processes and for elucidating potential therapeutic possibilities, including pharmacology.

An extended report of this meeting is published in Neuromuscular Disorders, Volume 13, No. 6, August 2003.

Dr. C. Wallgren-Pettersson (Finland)
Prof. N. Laing (Australia)

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