A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

Author:

Nagy Sara12,Lau Tracy1,Alavi Shahryar3ORCID,Karimiani Ehsan Ghayoor4,Vallian Jalal3,Ng Bobby G.5,Noroozi Asl Samaneh6,Akhondian Javad7,Bahreini Amir8,Yaghini Omid9,Uapinyoying Prech10,Bonnemann Carsten10,Freeze Hudson H.5,Dissanayake Vajira H. W.11,Sirisena Nirmala D.11ORCID,Schmidts Miriam12,Houlden Henry1,Moreno‐De‐Luca Andres13ORCID,Maroofian Reza1

Affiliation:

1. MRC Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK

2. Department of Neurology University Hospital Basel, University of Basel Basel Switzerland

3. Division of Genetics, Department of Cellular and Molecular Biology and Microbiology, Faculty of Science and Technology University of Isfahan Isfahan Iran

4. Molecular and Clinical Sciences Institute, St. George's, University of London London UK

5. Human Genetics Program Sanford Burnham Prebys Medical Discovery Institute La Jolla California USA

6. Pediatrics Endocrinology Department Mashhad University of Medical Sciences Mashhad Iran

7. Pediatric Neurology Department Ghaem hospital, Mashhad University of Medical Sciences Mashhad Iran

8. Karyogen Medical Genetics Laboratory Alzahra University Isfahan Iran

9. Child Growth and Development Research Center Research Institute for Primordial Prevention of Non‐Communicable Disease, Isfahan University of Medical Sciences Isfahan Iran

10. Neuromuscular and Neurogenetic Disorders of Childhood Section National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda Maryland USA

11. Department of Anatomy, Genetics & Biomedical Informatics, Faculty of Medicine University of Colombo Colombo Sri Lanka

12. Department of Pediatrics and Adolescent Medicine University Hospital Freiburg, Freiburg University Faculty of Medicine Germany

13. Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology Diagnostic Medicine Institute Danville Pennsylvania USA

Funder

Deutsche Forschungsgemeinschaft

European Research Council

Medical Research Council Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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