Structural congenital myopathies (excluding nemaline myopathy, myotubular myopathy and desminopathies): 56th European Neuromuscular Centre (ENMC) sponsored International Workshop December 12–14, 1997, Naarden, The Netherlands

169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands

“…Dilatation of adjacent lateral sacs suggests an origin of the cylindrical spirals from the sarcoplasmic reticulum. In an innervated muscle tissue culture obtained from case 2 cylindrical spirals were identified within lateral sacs [1,3]. A cousin of case 2 with three daughters and one son had been identified more recently, all of them clinically presenting facioscapulohumeral (FSH) involvement of variable severity.…”

“…A cousin of case 2 with three daughters and one son had been identified more recently, all of them clinically presenting facioscapulohumeral (FSH) involvement of variable severity. A muscle biopsy of the more severely affected daughter at the age of 26 years (case 3, 6th generation) also showed cylindrical spirals together with myopathic features and inflammatory infiltration [1]. Frozen tissue from this case is available for possible laser capture micro dissection.…”

“…This workshop can be considered a follow-up to an earlier one [1], then and now excluding classical CM on which separate workshops have repeatedly been held at ENMC and respective consortia exist such as on nemaline myopathies, centronuclear myopathies, core myopathies, as well as protein aggregate myopathies. CM can be classified according to CM-specific morphological features, certain epidemiological aspects or on molecular grounds.…”

“…This workshop addressed those rare CM which, to date, have not been assigned to any known genes by virtue of identifying disease causing mutations. Of the approximately 10 CM discussed at the earlier workshop [1] seven have now been clarified molecularly. The workshop concentrated on the remaining three and other rare CM, i.e., tubular aggregates myopathy, cylindrical spirals myopathy, crystalline body myopathy, as well as fingerprint and Zebra bodies myopathies with the goal to characterise them nosologically and to develop further strategies towards their molecular clarification.…”

Congenital Myopathies

“…New cases with hitherto undescribed morphological abnormalities continue to be observed such as "myopathy with hexagonally crosslinked tubular arrays" (8). Extensive reviews have been provided (24,33,34) and, recently, in conjunction with a European Neuromuscular Centre (ENMC) workshop (30). In particular, the increasing numbers of workshops and consortia procured by the ENMC on different groups of congenital myopathies have contributed to a renewed interest as well as new data in many CM.…”