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SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review.

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Title: SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review.
Authors: Chan TY; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region., Hung LY; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region., Lam TY; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong Special Administrative Region., Sheng B; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong Special Administrative Region., Leung FY; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region.; Department of Pathology, Yan Chai Hospital, Hong Kong Special Administrative Region., Lee HH; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region.
Source: Heliyon [Heliyon] 2023 Dec 11; Vol. 10 (1), pp. e23663. Date of Electronic Publication: 2023 Dec 11 (Print Publication: 2024).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101672560 Publication Model: eCollection Cited Medium: Print ISSN: 2405-8440 (Print) Linking ISSN: 24058440 NLM ISO Abbreviation: Heliyon Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review.
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  Data: <searchLink fieldCode="AU" term="%22Chan+TY%22">Chan TY</searchLink>; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region.<br /><searchLink fieldCode="AU" term="%22Hung+LY%22">Hung LY</searchLink>; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region.<br /><searchLink fieldCode="AU" term="%22Lam+TY%22">Lam TY</searchLink>; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong Special Administrative Region.<br /><searchLink fieldCode="AU" term="%22Sheng+B%22">Sheng B</searchLink>; Department of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong Special Administrative Region.<br /><searchLink fieldCode="AU" term="%22Leung+FY%22">Leung FY</searchLink>; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region.; Department of Pathology, Yan Chai Hospital, Hong Kong Special Administrative Region.<br /><searchLink fieldCode="AU" term="%22Lee+HH%22">Lee HH</searchLink>; Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region.
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  Data: <searchLink fieldCode="JN" term="%22101672560%22">Heliyon</searchLink> [Heliyon] 2023 Dec 11; Vol. 10 (1), pp. e23663. <i>Date of Electronic Publication: </i>2023 Dec 11 (<i>Print Publication: </i>2024).
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  Data: Case Reports; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Ltd%22">Elsevier Ltd </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101672560 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2405-8440 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2224058440%22">24058440 </searchLink><i>NLM ISO Abbreviation: </i>Heliyon <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1016/j.heliyon.2023.e23663
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      – Code: eng
        Text: English
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              Text: 2023 Dec 11
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