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The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung, Kit San; Yu, Florrie N Y; Fung, Cheuk Wing; Wong, Sheila; Lee, Hencher H C; Fung, Sharon T H; Fung, Genevieve P G; Leung, Kwok Yin; Chung, Wai Hang; Lee, Yun Ting; Ng, Vivian K S; Yu, Mullin H C; Fung, Jasmine L F; Tsang, Mandy H Y; Chan, Kelvin Y K; Chan, Sophelia H S; Kan, Anita S Y; Chung, Brian H Y.
Affiliation
  • Yeung KS; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Yu FNY; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Fung CW; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Wong S; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Lee HHC; Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Fung STH; Department of Paediatrics, Kwong Wah Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Fung GPG; Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Leung KY; Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Chung WH; Department of Obstetrics and Gynaecology, United Christian Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Lee YT; Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Ng VKS; Department of Obstetrics and Gyanecology, Kwong Wah Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Yu MHC; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Fung JLF; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Tsang MHY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Chan KYK; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Chan SHS; Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
  • Kan ASY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
  • Chung BHY; Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Mol Genet Genomic Med ; 8(7): e1229, 2020 07.
Article in En | MEDLINE | ID: mdl-32352246
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Full text: 1 Database: MEDLINE Main subject: Myopathies, Nemaline / Founder Effect / Muscle Proteins Limits: Adult / Female / Humans / Newborn Country/Region as subject: Asia Language: En Year: 2020 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Myopathies, Nemaline / Founder Effect / Muscle Proteins Limits: Adult / Female / Humans / Newborn Country/Region as subject: Asia Language: En Year: 2020 Type: Article