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Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
Lee, Han-Chih Hencher; Wong, Shun; Sheng, Bun; Pan, Nin-Yuan Keith; Leung, Ying-Kit Frank; Lau, Kwok-Kwong Dominic; Cheng, Yue Sandy; Ho, Luen-Cheung; Li, Richard; Lee, Chi-Nam; Tsoi, Tak-Hong; Cheung, Yuk-Fai Nelson; Fu, Yat-Pang Michael; Kan, Nim-Chi Amanda; Chu, Yim-Pui; Au, Wing-Chi Lisa; Yeung, Hon-Ming Jonas; Li, Siu-Hung; Cheung, Chi-Fung Mark; Tong, Hok-Fung; Hung, Ling-Yin Esther; Chan, Tina Yee-Ching; Li, Chi Terence; Tong, Tsz-Yan Tammy; Tong, Tin-Wing Candy; Leung, Ho-Ying Cory; Lee, Ka-Ho; Yeung, Sung-Yan Sue; Lee, Sau-Yin Blanka; Lau, Tze-Chin Gene; Lam, Ching-Wan; Mak, Chloe Miu; Chan, Albert Yan-Wo.
Afiliação
  • Lee HH; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Wong S; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Sheng B; Pathology Department, St. Paul's Hospital, Hong Kong.
  • Pan NK; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong.
  • Leung YF; Department of Diagnostic Radiology, Princess Margaret Hospital, Hong Kong.
  • Lau KD; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Cheng YS; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong.
  • Ho LC; Department of Clinical Pathology, Pamela Youde Nethersole Eastern Hospital, Hong Kong.
  • Li R; Department of Clinical Laboratory, Gleneagles Hong Kong Hospital, Hong Kong.
  • Lee CN; Department of Pathology, Queen Elizabeth Hospital, Hong Kong.
  • Tsoi TH; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong.
  • Cheung YN; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong.
  • Fu YM; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong.
  • Kan NA; Department of Medicine, Queen Elizabeth Hospital, Hong Kong.
  • Chu YP; Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong.
  • Au WL; Department of Clinical Pathology, Tuen Mun Hospital, Hong Kong.
  • Yeung HJ; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong.
  • Li SH; Department of Medicine and Therapeutics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong.
  • Cheung CM; Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong.
  • Tong HF; Department of Medicine, North District Hospital, Hong Kong.
  • Hung LE; Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong.
  • Chan TY; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Li CT; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Tong TT; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Tong TC; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Leung HC; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Lee KH; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Yeung SS; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Lee SB; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Lau TG; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Lam CW; Department of Pathology, Princess Margaret Hospital, Hong Kong.
  • Mak CM; Department of Pathology, Queen Elizabeth Hospital, Hong Kong.
  • Chan AY; Department of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.
Clin Genet ; 97(5): 747-757, 2020 05.
Article em En | MEDLINE | ID: mdl-32022900
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Miopatias Congênitas Estruturais / Filaminas Tipo de estudo: Screening_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Hong Kong
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Miopatias Congênitas Estruturais / Filaminas Tipo de estudo: Screening_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: Clin Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Hong Kong