60th Annual Meeting of the Japanese Society of Neurology

Presentation information

Oral Session

[O-24] Myopathy1

Thu. May 23, 2019 9:45 AM - 10:45 AM Room 14 (Osaka International Convention Center 7F Conference Room 701-702)

Chair:Yoshihide Sunada(Department of Neurology, Kawasaki Medical School) Commentator:Stephen C. Cannon(David Geffen School of Medicine at UCLA)

[O-24-4] Homozygous c.3G>A mutation in CYRAB contribute to fatal infantile hypertonic myofibrillar myopathy

Uet Yu1, Chunxi Han1,2, Jing Duan1,2, Jiahui Mai1,2, Jianxiang Liao1 (1.Department of Neurology, Shenzhen Children's Hospital, China, 2.Department of Neuromuscular Research Lab, Shenzhen Children's Hospital, China)

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