イシガキ　ケイコ   ISHIGAKI Keiko   石垣　景子    所属   医学部 医学科（東京女子医科大学病院）    職種   准教授
論文種別	原著
言語種別	英語
査読の有無	査読なし
表題	Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications
掲載誌名	正式名：Neurology. Genetics. 略　 称：Neurol Genet ISSNコード：23767839
掲載区分	国外
巻・号・頁	11(1),pp.e200215
著者・共著者	NAKAMURA Akinori, MATSUMURA Tsuyoshi, OGATA Katsuhisa, MORI-YOSHIMURA Madoka, TAKESHITA Eri, KIMURA Koichi, ARAHATA Hajime, TAKESHIMA Yasuhiro, TAKAHASHI Toshiaki, ISHIGAKI Keiko, AWANO Hiroyuki, SUGIE Kazuma, FUJI Tatsuya, OI Hideki, KOMAKI Hirofumi
発行年月	2024/12/17
概要	Background and objectives: Becker muscular dystrophy (BMD) is an allelic disorder of Duchenne muscular dystrophy (DMD) in which pathogenic variants in DMD cause progressive worsening of motor dysfunction, muscle weakness and atrophy, and death due to respiratory and cardiac failure. BMD often has in-frame deletions that preserve the amino acid reading frame, but there are some cases with microvariants or duplications. In recent years, the importance of therapeutic development and care for BMD has been emphasized. Therefore, the purpose of this study was to understand the clinical characteristics of BMD patients with microvariants or duplications and to determine the genotype-phenotype relationship.
DOI	10.1212/NXG.0000000000200215
PMID	39712290