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

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Bibliographic Details
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
Description
ISSN:2405-8440
DOI:10.1016/j.heliyon.2023.e23663