A novel homozygous nonsense variant in COL12A1 causes myopathic Ehlers‐Danlos syndrome: A case report and literature review

Author:

El Sherif Rasha12,Saito Yoshihiko3ORCID,Hussein Rasha S.4,Izu Yayoi56,Koch Manuel7,Noguchi Satoru3,Nishino Ichizo3

Affiliation:

1. Myo‐Care Neuromuscular Center Myo‐Care National Foundation Cairo Egypt

2. School of Medicine New Giza University Cairo Egypt

3. Department of Neuromuscular Research, National Institute of Neuroscience National Center of Neurology and Psychiatry Tokyo Japan

4. Department of Diagnostic Radiology, Intervention and Molecular Imaging, Faculty of Medicine Ain Shams University Cairo Egypt

5. Department of Laboratory Animal Science, Faculty of Veterinary Medicine Okayama University of Science Okayama Japan

6. Laboratory of Comparative Cellular Biology Nippon Veterinary and Life Science University Tokyo Japan

7. Institute for Dental Research and Oral Musculoskeletal Biology and Center for Biochemistry, Medical Faculty University of Cologne Cologne Germany

Funder

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Publisher

Wiley

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