Spinal muscular atrophy—like features in a child with heterozygous MYBPC1 mutations

Saki Uneoka

Presentation information

Platform Session

[EO-02] Platform Session 02：Neuromuscular Disorders 2

Thu. Jun 2, 2022 1:10 PM - 2:20 PM Room 6 (Medium Conference Room 202)

Chair: Yi Fong Choong(Department of Paediatrics, Faculty of Medicine, Un),Takahiro Yonekawa(Department of Pediatrics, Mie University Graduate School of Medicine)

[EO-008] Spinal muscular atrophy—like features in a child with heterozygous MYBPC1 mutations

Saki Uneoka¹，Yurika Numata—Uematsu¹，Yu Abe¹，Naoya Saijo¹，Yu Aihara¹，Yu Katata¹，Yoshitsugu Oikawa¹，Mitsugu Uematsu¹，Kayoko Saito²，Shigeo Kure¹ (1. Department of Pediatrics, University of Tohoku, Miyagi, Japan，2. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan)

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