Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis

Author:

Estephan Eduardo P.123ORCID,Zambon Antonio A.1,Thompson Rachel4,Polavarapu Kiran4,Jomaa Danny45,Töpf Ana6,Helito Paulo V. P.7,Heise Carlos O.1,Moreno Cristiane A. M.123,Silva André M. S.1,Kouyoumdjian Joao A.8,Morita Maria da Penha8,Reed Umbertina C.1,Lochmüller Hanns49101112,Zanoteli Edmar1

Affiliation:

1. Department of Neurology Faculdade de Medicina da Universidade de São Paulo (FMUSP) Sao Paulo Brazil

2. Department of Neurology Hospital Santa Marcelina Sao Paulo Brazil

3. Department of Medical Clinic Faculdade de Medicina Santa Marcelina (FASM) Sao Paulo Brazil

4. Children's Hospital of Eastern Ontario Research Institute Ottawa ON Canada

5. Queen's University School of Medicine Kingston ON Canada

6. John Walton Muscular Dystrophy Research Centre Translational and Clinical Research InstituteUniversity of Newcastle Newcastle upon Tyne UK

7. Department of Radiology Hospital das Clínicas (HCFMUSP)Instituto de Ortopedia (IOT) Sao Paulo Brazil

8. Faculdade Estadual de Medicina de Sao Jose do Rio Preto (FAMERP) Sao Jose do Rio Preto Brazil

9. Brain and Mind Research Institute University of Ottawa Ottawa ON Canada

10. Department of Medicine Ottawa Research Institute Ottawa ON Canada

11. Department of Neuropediatrics and Muscle Disorders Faculty of Medicine University Medical Center Freiburg Freiburg Germany

12. Centro Nacional de Análisis Genómico (CNAG‐CRG) Center for Genomic Regulation Barcelona Institute of Science and Technology (BIST) Barcelona Spain

Funder

Canadian Institutes of Health Research

Canada Research Chairs

National Human Genome Research Institute

Canada Foundation for Innovation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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