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Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.

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Title: Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
Authors: Lee HH; Department of Pathology, Princess Margaret Hospital, Hong Kong., Wong S; Department of Pathology, Princess Margaret Hospital, Hong Kong.; Pathology Department, St. Paul's Hospital, Hong Kong., Sheng B; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong., Pan NK; Department of Diagnostic Radiology, Princess Margaret Hospital, Hong Kong., Leung YF; Department of Pathology, Princess Margaret Hospital, Hong Kong., Lau KD; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong., Cheng YS; Department of Clinical Pathology, Pamela Youde Nethersole Eastern Hospital, Hong Kong.; Department of Clinical Laboratory, Gleneagles Hong Kong Hospital, Hong Kong., Ho LC; Department of Pathology, Queen Elizabeth Hospital, Hong Kong., Li R; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong., Lee CN; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong., Tsoi TH; Department of Medicine, Pamela Youde Nethersole Eastern Hospital, Hong Kong., Cheung YN; Department of Medicine, Queen Elizabeth Hospital, Hong Kong., Fu YM; Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong., Kan NA; Department of Clinical Pathology, Tuen Mun Hospital, Hong Kong., Chu YP; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong., Au WL; Department of Medicine and Therapeutics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong., Yeung HJ; Department of Medicine, Alice Ho Miu Ling Nethersole Hospital, Hong Kong., Li SH; Department of Medicine, North District Hospital, Hong Kong., Cheung CM; Department of Medicine and Geriatrics, Tuen Mun Hospital, Hong Kong., Tong HF; Department of Pathology, Princess Margaret Hospital, Hong Kong., Hung LE; Department of Pathology, Princess Margaret 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, Queen Elizabeth Hospital, Hong Kong., Lam CW; Department of Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong., Mak CM; Department of Pathology, Princess Margaret Hospital, Hong Kong., Chan AY; Department of Pathology, Princess Margaret Hospital, Hong Kong.
Source: Clinical genetics [Clin Genet] 2020 May; Vol. 97 (5), pp. 747-757. Date of Electronic Publication: 2020 Feb 23.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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