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- W2065404617 abstract "The 121st European Neuromuscular Centre (ENMC)sponsored International Workshop on ‘DESMIN and Protein Aggregate Myopathies’, attended by 16 active participants from France, Germany, Poland, Spain, Sweden, the United Kingdom and the USA, was actually the fourth one in a row addressing the pathology of the muscle fibre intermediate filament desmin, its associated and similar diseases, all four [1–3] organized by Michel Fardeau and Hans H. Goebel. In his introduction, the chairman, Hans H. Goebel (Mainz), recorded the evolution of ‘Protein Aggregate Myopathies (PAM)’ which are marked by the accumulation of diverse proteins within muscle fibres as a morphologic hallmark in separate myopathies which now comprise several diverse entities (Table 1). Desmin-related myopathies were first reported as cytoplasmic myopathy, granulofilamentous myopathy [4], spheroid body myopathy [5] and a form of congenital muscular dystrophy [6]. Subsequently, they have been found to have accumulation of desmin as a common morphological denominator but are genetically diverse, comprising desminopathies [7,8] owing to mutations in the desmin gene, a-B crystallinopathy [9–11] owing to mutations in the a-B crystallin gene, recently selenoproteinopathies owing to mutations in the selenoprotein N1 gene [12] and newly, added, myotilinopathies [13]. In addition to desmin, a multitude of fibre proteins accrue to respective inclusions or granulofilamentous material. Only briefly, because belonging to other ENMC Consortia, such as one on ‘Nemaline myopathy’," @default.
- W2065404617 created "2016-06-24" @default.
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- W2065404617 date "2004-11-01" @default.
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- W2065404617 title "121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7–9 November 2003, Naarden, The Netherlands" @default.
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- W2065404617 doi "https://doi.org/10.1016/j.nmd.2004.08.003" @default.
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