Journal Article10.1016/J.NMD.2009.04.002
165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands.
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TL;DR: The workshop agreed on guidelines for diagnostic procedures for clinicians, emphasizing the role of muscle imaging to complement and direct the investigation towards a correct molecular genetic diagnosis, and all the further steps to enable patient clinical trials were emphasized.
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About: This article is published in Neuromuscular Disorders. The article was published on 01 Jun 2009. The article focuses on the topics: Distal Myopathies.
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Citations
Prevalence of Muscular Dystrophies: A Systematic Literature Review
Alice Theadom,Miriam Rodrigues,Richard Roxburgh,Shiavnthi Balalla,Chris Higgins,R. Bhattacharjee,Kelly Jones,Rita Krishnamurthi,Valery L. Feigin +8 more
TL;DR: There was wide variation in study methodology, case ascertainment, and verification procedures and populations studied, all of which may contribute to the wide prevalence range, in addition to the likely variation in prevalence by country.
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population
Fiona L. M. Norwood,Chris Harling,Patrick F. Chinnery,Michelle Eagle,Kate Bushby,Volker Straub +5 more
TL;DR: A detailed population study of patients with genetic muscle disease in the northern region of England, comparing the case profile with that from Walton and Nattrass' seminal study from 1954, together with data from other more recent studies from around the world.
Myosinopathies: pathology and mechanisms.
Homa Tajsharghi,Anders Oldfors +1 more
TL;DR: In vitro studies on the effects of different mutations associated with myosin storage myopathy and Laing distal myopathy indicate altered biochemical and biophysical properties of the light meromyosin, which is essential for thick filament assembly.
Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
Rachael M. Duff,Valerie Tay,Peter Hackman,Gianina Ravenscroft,Catriona McLean,Paul Kennedy,Alina Steinbach,Wiebke Schöffler,Peter F.M. van der Ven,Dieter O. Fürst,Jaeguen Song,Kristina Djinović-Carugo,Kristina Djinović-Carugo,Sini Penttilä,Olayinka Raheem,Katrina Reardon,Alessandro Malandrini,S. Gambelli,Marcello Villanova,Kristen J. Nowak,David R. Williams,John Landers,Robert H. Brown,Bjarne Udd,Bjarne Udd,Nigel G. Laing +25 more
TL;DR: It is concluded filamin CABD mutations cause a recognizable distal myopathy, most likely through increased actin affinity, similar to the pathological mechanism of filamin A and filamin B ABD mutations.
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Distal myopathies--new genetic entities expand diagnostic challenge.
TL;DR: Based on the combination of age at onset, mode of inheritance, pathology and muscle imaging, the number of underlying candidate genes for a certain disease can be significantly reduced, which is of help for the molecular genetic approach.
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