214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015

TY - JOUR

T1 - 214th ENMC International Workshop

T2 - Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015

AU - 214th ENMC workshop participants

AU - Donkervoort, Sandra

AU - Dowling, James J.

AU - Laporte, Jocelyn

AU - MacArthur, Daniel

AU - Bönnemann, Carsten G.

AU - Beggs, Alan

AU - Bonne, Gisele

AU - Bönnemann, Carsten

AU - Dowling, James

AU - Dubowitz, Victor

AU - Goldberg, Michael

AU - Goldberg, Morton

AU - Herault, Yann

AU - Karakaya, Mert

AU - Lennox, Anne

AU - Malfatti, Eduardo

AU - Mathews, Katherine

AU - Mora, Marina

AU - Nishino, Ichizo

AU - Oates, Emily

AU - Rutkowski, Anne

AU - Spring, Melanie

AU - Voermans, Nicol

AU - Warman, Jodi

AU - Willer, Tobias

AU - Xiong, Hui

AU - Zaharieva, Irina

AU - Zanoteli, Edmar

N1 - Funding Information: The Dubowitz Neuromuscular Centre at the Institute of Child Health, UCL and Great Ormond Street Hospital is the major national referral center for CMD in the UK. Currently, the Centre is a member and coordinating center for CMD on a multicenter collaborative grant (NeurOmics), funded by the European Commission. Irina Zaharieva from the Centre reported that WES was performed in 100 clinically well characterized patients with CM/CMD, resulting in the identification of several new causative genes [9,10] . Overall, 58% of the CMD cases have been resolved by mutations in well-established neuromuscular genes [11] ; 5% carried mutations in a known gene but associated with unusual features; in another 5% of cases a new phenotype associated with known genes was described, and in 19% a plausible novel candidate genes were identified. Funding Information: This Workshop was made possible thanks to the financial support of the European Neuromuscular Centre (ENMC) and ENMC main sponsors: Association Française contre les Myopathies (France), Deutsche Gesellschaft für Muskelkranke (Germany), Muscular Dystrophy Campaign (UK), Muskelsvindfonden (Denmark), Prinses Beatrix Spierfonds (The Netherlands), Schweizerische Stiftung für die Erforschung der Muskelkrankheiten (Switzerland), Telethon Foundation (Italy), Spierziekten Nederland (The Netherlands) and Associated members: Finnish Neuromuscular Association (Finland). With a special thanks to the RYR-1 Foundation, the Foundation Building Strength, Cure CMD and Myotubular Trust for their generous support. Funding Information: This Workshop was made possible thanks to the financial support of the European Neuromuscular Centre (ENMC) and ENMC main sponsors: Association Fran?aise contre les Myopathies (France), Deutsche Gesellschaft f?r Muskelkranke (Germany), Muscular Dystrophy Campaign (UK), Muskelsvindfonden (Denmark), Prinses Beatrix Spierfonds (The Netherlands), Schweizerische Stiftung f?r die Erforschung der Muskelkrankheiten (Switzerland), Telethon Foundation (Italy), Spierziekten Nederland (The Netherlands) and Associated members: Finnish Neuromuscular Association (Finland). With a special thanks to the RYR-1 Foundation, the Foundation Building Strength, Cure CMD and Myotubular Trust for their generous support.

PY - 2019/8

Y1 - 2019/8

UR - http://www.scopus.com/inward/record.url?scp=85071701406&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85071701406&partnerID=8YFLogxK

U2 - 10.1016/j.nmd.2019.07.002

DO - 10.1016/j.nmd.2019.07.002

M3 - Article

C2 - 31400830

AN - SCOPUS:85071701406

SN - 0960-8966

VL - 29

SP - 644

EP - 650

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 8

ER -