Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness-Reference-Cited by-同舟云学术

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness

Published:2018-04-28 Issue:7 Volume:176 Page:1594-1601
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Owen David¹^ORCID,Töpf Ana¹,Preethish‐Kumar Veeramani²,Lorenzoni Paulo José³,Vroling Bas⁴,Scola Rosana Herminia³,Dias‐Tosta Elza⁵,Geraldo Argemiro⁶,Polavarapu Kiran²,Nashi Saraswati²,Cox Daniel¹,Evangelista Teresinha¹,Dawson John¹,Thompson Rachel¹,Senderek Jan⁷,Laurie Steven⁸⁹,Beltran Sergi⁸⁹,Gut Marta⁸⁹,Gut Ivo⁸⁹,Nalini Atchayaram²,Lochmüller Hanns¹⁸¹⁰

Affiliation:

1. Institute of Genetic MedicineNewcastle UniversityNewcastle upon Tyne United Kingdom

2. Department of NeurologyNational Institute of Mental Health and Neurosciences (NIMHANS)Bangalore Karnataka India

3. Service of Neuromuscular Disorders, Division of Neurology, Department of Internal MedicineHospital de Clínicas, Universidade Federal do ParanáCuritiba Brazil

4. Bio‐ProdictNijmegen The Netherlands

5. Unidade de Neurologia ClínicaHospital de Base do Distrito FederalBrasília Brazil

6. Serviço de NeurologiaCentro Hospitalar e Universitário de CoimbraCoimbra Portugal

7. Friedrich‐Baur‐Institut, Ludwig‐Maximilians‐University MunichMunich Germany

8. CNAG‐CRG, Centre for Genomic Regulation (CRG)Barcelona Institute of Science and Technology (BIST)Barcelona Spain

9. Universitat Pompeu Fabra (UPF)Barcelona Spain

10. Department of Neuropediatrics and Muscle DisordersFaculty of Medicine, Medical Center—University of FreiburgFreiburg Germany

Funder

Medical Research Council

European Commission

Publisher

Wiley