Bi-allelic mutations in MYL1 cause a severe congenital myopathy

Author:

Ravenscroft Gianina1ORCID,Zaharieva Irina2,Bortolotti Carlo A3,Lambrughi Matteo3,Pignataro Marcello4,Borsari Marco4,Sewry Caroline A2,Phadke Rahul2,Haliloglu Goknur4,Ong Royston1,Goullée Hayley1,Whyte Tamieka2,Manzur Adnan2,Talim Beril5,Kaya Ulkuhan6,Osborn Daniel PS7,Forrest Alistair1,Laing Nigel G1,Muntoni Francesco28,

Affiliation:

1. Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia, 6009

2. The Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health & and Great Ormond Street Hospital, London, UK

3. Department of Life Sciences, University of Modena and Reggio Emilia Romagna, Modena, Italy

4. Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100, Ankara, Turkey

5. Pediatric Pathology Unit, Hacettepe University Children’s Hospital, 06100, Ankara, Turkey

6. Dr. Sami Ulus Maternity and Children’s Research and Training Hospital, Ministry of Health, Department of Pediatric Neurology, Ankara, Turkey

7. Cardiovascular and Cell Sciences Institute, St George’s University of London, Cranmer Terrace, London SW17 0RE, UK

8. NIHR Great Ormond Street Hospital Biomedical Research Centre, 30 Guilford Street, LondonWC1N 1EH, UK

Funder

National Health and Medical Research Council

Wellcome Trust

AFM-Téléthon

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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