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

Neuropathol Appl Neurobiol. 2024 Aug;50(4):e13004. doi: 10.1111/nan.13004.

Rasha El Sherif^{1

2}, Yoshihiko Saito³, Rasha S Hussein⁴, Yayoi Izu^{5

6}, Manuel Koch⁷, Satoru Noguchi³, Ichizo Nishino³

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.

No abstract available

Keywords: COL12A1; Ullrich congenital muscular dystrophy; immunohistochemistry; myopathic Ehlers‐Danlos syndrome (mEDS).

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