Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation

Neuropathology and Applied Neurobiology

Volumn 41, Issue 3, 2015, Pages 391-398

  Yamashita, Satoshi ^a   Mori, Akira ^a   Nishida, Yasuto ^b   Kurisaki, Ryoichi ^c   Tawara, Nozomu ^a   Nishikami, Tomo ^a   Misumi, Yohei ^a   Ueyama, Hidetsugu ^b   Imamura, Shigehiro ^b   Higuchi, Yujiro ^d   Hashiguchi, Akihiro ^d   Higuchi, Itsuro ^d   Morishita, Shinichi ^e   Yoshimura, Jun ^e   Uchino, Makoto ^a   Takashima, Hiroshi ^d   Tsuji, Shoji ^f   Ando, Yukio ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b Kumamoto Saishunsou National Hospital   (Japan)

^c National Hospital Organization Kumamotominami National Hospital   (Japan)

^d KAGOSHIMA UNIVERSITY   (Japan)

^e UNIVERSITY OF TOKYO   (Japan)

^f UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PROTEIN P62; TAR DNA BINDING PROTEIN; MATR3 PROTEIN, HUMAN; NUCLEAR MATRIX PROTEIN; RNA BINDING PROTEIN;

ADULT; AGED; ARTICLE; ASIAN; CASE REPORT; DISTAL MYOPATHY; DYSARTHRIA; DYSPHAGIA; ELECTRON MICROSCOPY; FEMALE; GENE; HUMAN; IMMUNOFLUORESCENCE; IMMUNOREACTIVITY; MAJOR HISTOCOMPATIBILITY COMPLEX; MATRIN 3 GENE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; NASAL SPEECH; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; REFLEX DISORDER; RESPIRATORY FAILURE; SOMNOLENCE; THROAT DISEASE; VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY; ASIAN CONTINENTAL ANCESTRY GROUP; GENETICS; IMMUNOHISTOCHEMISTRY; LARYNX DISORDER; PEDIGREE; PHARYNX DISEASE;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; DISTAL MYOPATHIES; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; LARYNGEAL DISEASES; MUTATION, MISSENSE; NUCLEAR MATRIX-ASSOCIATED PROTEINS; PEDIGREE; PHARYNGEAL DISEASES; RNA-BINDING PROTEINS;

EID: 84924050221     PISSN: 03051846     EISSN: 13652990     Source Type: Journal    
DOI: 10.1111/nan.12179     Document Type: Article

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