[P1-05] Neuromuscular Disorders 1 | The 71st Annual Meeting of the Japan Society of Human Genetics

Session Details

Poster Session

[P1-05]Neuromuscular Disorders 1

Thu. Nov 19, 2026 4:00 PM - 5:00 PM JST
Thu. Nov 19, 2026 7:00 AM - 8:00 AM UTC

Exhibition Hall 1-A+2 (5) (Exhibition Hall 1-A+2, Exhibition Building, Sendai International Center)

[P1-05-01]Platform-specific characteristics in the analysis of pathogenic RFC1 repeat motifs using long read sequencing

Shunsuke Ogata^1,², Satoko Miyatake^1,³, Kohei Hamanaka¹, Kazuki Yamada^1,⁴, Naomi Tsuchida^1,⁵, Yuri Uchiyama^1,⁵, Masamune Sakamoto¹, Eriko Koshimizu¹, Takeshi Mizuguchi¹, Hiroshi Doi², Fumiaki Tanaka², Naomichi Matsumoto^1,^3,⁵ (1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2. Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 3. Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan, 4. Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan, 5. Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan)

[P1-05-02]Urinary occult blood findings in spinal muscular atrophy patients treated with risdiplam

Toshio Saito¹, Hisahide Nishio² (1. Division of Child Neurology, Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan, 2. Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan)

[P1-05-03]A novel CTNNB1 variant in a patient with neurodevelopmental disorder and lower limb dystonia

Maki Nozaki¹, Kyoko Hoshino¹, Rina Shimomura², Miho Nagata³, Yoshihiro Asano^3,⁴, Masaharu Hayashi¹, Toshiyuki Yamamoto² (1. Segawa Memorial Neurological Clinic for Children, Tokyo, Japan, 2. Institute of Medical genetics, Tokyo Women's Medical University, Tokyo, Japan, 3. Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Japan, 4. Department of Genomic Medicine, National Cerebral and Cardiovascular Center, Suita, Japan)

[P1-05-04]A pedigree of mild encephalitis/encephalopathy with a reversible splenial lesion with mutation p.Q403R of the MYRF gene

Yoshitsugu Nakamura¹, Hirokazu Kurahashi², Hiroki Itoh³, Takafumi Hosokawa¹, Akihisa Okumura², Shigeki Arawaka¹ (1. Department of Internal Medicine IV, Division of Neurology, Osaka Medical and Pharmaceutical University, Osaka, Japan, 2. Department of Pediatrics, Aichi Medical University, Aichi, Japan, 3. Department of Neurology, Tenri Hospital, Nara, Japan)

[P1-05-05]A novel p.Gly42Cys SOD1 variant causing ALS with reduced thermal stability, aggregation propensity, and autopsy findings

Utako Nagaoka¹, Asuka Funai^1,², Kentaro Kawama¹, Kentaro Hayashi¹, Kota Bokuda¹, Kano Aikawa³, Yoshiaki Furukawa³, Nakamura Ryoichi⁴, Naoki Atsuta⁴, Genki Tohnai⁵, Airi Tarutani⁷, Masato Hasegawa⁷, Kenta Masui^2,⁸, Takashi Komori², Gen Sobue⁶, Kazushi Takahashi¹, Keisuke Ishizawa^2,⁹ (1. Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2. Department of Laboratory Medicine and Pathology (Neuropathology), Tokyo Metropolitan Neurological Hospital, 3. Department of Chemistry, Faculty of Science and Technology, Keio University, 4. Department of Neurology, Aichi Medical University School of Medicine, 5. Division of ALS Research, Aichi Medical University School of Medicine, 6. Aichi Medical University School of Medicine, 7. Department of Brain and Neurosciences, Tokyo Metropolitan Institute of Medical Science, 8. Department of Integrative Neuroscience, Graduate School of Biomedical Sciences, Nagasaki University, 9. Depatment of Pathology, Saitama Medical University)

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