2nd Workshop of the MYO CLUSTER project: EUROMEN

Number 97
Date 28 September 2001

Location: Naarden, The Netherlands


The second Workshop of the MYO CLUSTER project EUROMEN was held in Naarden on the 28th and the 29th September 2001. It was attended by 18 participants from France, Italy, Germany, The Netherlands and UK. This workshop aimed to collate the clinical findings of disorders caused by defects in proteins of the nuclear membrane, in particular lamins and emerin, and to relate these to cellular functions.
Four disorders are caused by mutations in the lamin A/C gene (LMNA): autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD), dilated cardiomyopathy with conduction-system defect (DCM-CD), dominant limb-girdle muscular dystrophy (LGMD1B) and Dunnigan-type familial partial lipodystrophy (FPLD). Mutations in the emerin gene (STA) lead to the X-linked form of EDMD. The wide clinical spectrum of the "laminopathies" was discussed. Clinical onset can occur in early childhood and these cases are characterised by early contractures, slowly progressive muscle wasting and weakness with a predominantly humero-peroneal distribution and a cardiomyopathy, associated with conduction defects. Sometimes an abnormal distribution of adipose tissue can be observed. Cardiac involvement poses a substantial risk of sudden death, which can be controlled by insertion of an implantable cardiac defibrillator (a sophisticated type of pace maker). This latter issue was highlighted during the workshop and a close cardiac follow-up is essential and highly recommended. To date, there is no clear correlation between the genotype and the phenotype and several modes of inheritance have been detected. Analysis performed of patient's tissues (skin, muscle biopsies, blood cells) were presented and discussed to understand the role of lamin A/C mutations in these diseases. The interactions of lamin A/C and emerin with different nuclear components were discussed.

An extended report of the meeting will be submitted for publication in Neuromuscular Disorders.

Dr. Gisèle Bonne (Paris, France)

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