title: Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation.
authors.affiliation: Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yamashita
authors.forename: Akira
authors.initials: A
authors.lastname: Mori
authors.forename: Yasuto
authors.initials: Y
authors.lastname: Nishida
authors.forename: Ryoichi
authors.initials: R
authors.lastname: Kurisaki
authors.forename: Nozomu
authors.initials: N
authors.lastname: Tawara
authors.forename: Tomo
authors.initials: T
authors.lastname: Nishikami
authors.forename: Yohei
authors.initials: Y
authors.lastname: Misumi
authors.forename: Hidetsugu
authors.initials: H
authors.lastname: Ueyama
authors.forename: Shigehiro
authors.initials: S
authors.lastname: Imamura
authors.forename: Yujiro
authors.initials: Y
authors.lastname: Higuchi
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hashiguchi
authors.forename: Itsuro
authors.initials: I
authors.lastname: Higuchi
authors.forename: Shinichi
authors.initials: S
authors.lastname: Morishita
authors.forename: Jun
authors.initials: J
authors.lastname: Yoshimura
authors.forename: Makoto
authors.initials: M
authors.lastname: Uchino
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.forename: Shoji
authors.initials: S
authors.lastname: Tsuji
authors.forename: Yukio
authors.initials: Y
authors.lastname: Ando
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D049310:Distal Myopathies / Q000235:genetics*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007818:Laryngeal Diseases / Q000235:genetics*; D020125:Mutation, Missense; D034521:Nuclear Matrix-Associated Proteins / Q000235:genetics*; D010375:Pedigree; D010608:Pharyngeal Diseases / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C518587:MATR3 protein, human; D034521:Nuclear Matrix-Associated Proteins; D016601:RNA-Binding Proteins