A 53‐year‐old man with a 16‐year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging-Reference-Cited by-同舟云学术

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

Published:2023-05-31 Issue:5 Volume:33 Page:
ISSN:1015-6305
Container-title:Brain Pathology
language:en
Short-container-title:Brain Pathology

Author:

Tanboon Jantima¹²^ORCID,El Sherif Rasha³,Inoue Michio¹²,Okubo Mariko¹²,Malfatti Edoardo⁴^ORCID,Nishino Ichizo¹²⁵^ORCID

Affiliation:

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

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Neurology (clinical),Pathology and Forensic Medicine,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bpa.13171

Reference3 articles.

1. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

2. The oxidoreductase PYROXD1 uses NAD(P)+ as an antioxidant to sustain tRNA ligase activity in pre-tRNA splicing and unfolded protein response

3. Clinical, histological, and genetic characterization of PYROXD1-related myopathy

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