JSCN2019

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Oral Presentation

Muscular disease

[O15] Muscular disease 2

Fri. May 31, 2019 2:30 PM - 3:30 PM Room 9 (Conference Room 133+134, 3F, Bldg. 1)

Chair: Keiko Ishigaki (Department of Pediatrics, Tokyo Women's Medical University, School of Medicine), Mariko Ikeda (Department of Clinical Genetics, Fujita Health University School of Medicine)

[O-087] A case of muscular dystrophy-dystroglycanopathy type B3 carrying novel variants in POMGNT1

中村和幸 (Kazuyuki Nakamura)1, 安孫子貴洋1, 西野一三2, 山本洋平3, 三井哲夫1 (1.山形大学医学部小児科, 2.国立精神・神経医療研究センター疾病研究第1部, 3.青森県立中央病院新生児科)

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