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Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients.
Chan, Sophelia Hs; Ho, Ronnie Sl; Khong, P L; Chung, Brian Hy; Tsang, Mandy Hy; Yu, Mullin Hc; Yeung, Matthew Cw; Chan, Angel Ok; Fung, C W.
Affiliation
  • Chan SH; Department of Pediatrics and Adolescent Medicine, LKS Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong Special Administrative Region. Electronic address: sophehs@hku.hk.
  • Ho RS; Department of Pathology and Clinical Biochemistry, Queen Mary Hospital, Hong Kong Special Administrative Region.
  • Khong PL; Department of Radiology, Queen Mary Hospital, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region.
  • Chung BH; Department of Pediatrics and Adolescent Medicine, LKS Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong Special Administrative Region.
  • Tsang MH; Department of Pediatrics and Adolescent Medicine, LKS Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong Special Administrative Region.
  • Yu MH; Department of Pediatrics and Adolescent Medicine, LKS Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong Special Administrative Region.
  • Yeung MC; Department of Pathology and Clinical Biochemistry, Queen Mary Hospital, Hong Kong Special Administrative Region.
  • Chan AO; Department of Pathology and Clinical Biochemistry, Queen Mary Hospital, Hong Kong Special Administrative Region.
  • Fung CW; Department of Pediatrics and Adolescent Medicine, LKS Faculty of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong Special Administrative Region.
Neuromuscul Disord ; 30(1): 47-53, 2020 01.
Article in En | MEDLINE | ID: mdl-31926838
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Full text: 1 Database: MEDLINE Main subject: Choline Kinase / Muscular Dystrophies Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans Country/Region as subject: Asia Language: En Year: 2020 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Choline Kinase / Muscular Dystrophies Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans Country/Region as subject: Asia Language: En Year: 2020 Type: Article