A 53-year-old man with a 16-year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging

Brain Pathol. 2023 Sep;33(5):e13171. doi: 10.1111/bpa.13171. Epub 2023 May 31.

Jantima Tanboon^{1

2}, Rasha El Sherif³, Michio Inoue^{1

2}, Mariko Okubo^{1

2}, Edoardo Malfatti⁴, Ichizo Nishino^{1

2

5}

¹ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
² Departments of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
³ Myo-Care Neuromuscular Center, Myo-Care National Foundation, Cairo, Egypt.
⁴ Université Paris Est Créteil, INSERM, U955 IMRB, APHP, Hôpital Henri-Mondor, Créteil, France.
⁵ Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.

No abstract available

Keywords: PYROXD1; asymmetrical weakness; muscle pathology; myopathy; scapular winging.

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