The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Author:

Yeung Kit San1,Yu Florrie N. Y.2ORCID,Fung Cheuk Wing3,Wong Sheila3,Lee Hencher H. C.4,Fung Sharon T. H.5,Fung Genevieve P. G.6,Leung Kwok Yin2,Chung Wai Hang7,Lee Yun Ting8,Ng Vivian K. S.9,Yu Mullin H. C.1,Fung Jasmine L. F.1,Tsang Mandy H. Y.1,Chan Kelvin Y. K.1011,Chan Sophelia H. S.1ORCID,Kan Anita S. Y.1011,Chung Brian H. Y.1ORCID

Affiliation:

1. Department of Paediatrics and Adolescent Medicine The University of Hong KongHong Kong Special Administrative Region Hong Kong China

2. Department of Obstetrics and Gynaecology Queen Elizabeth HospitalHong Kong Special Administrative Region Hong Kong China

3. Department of Paediatrics and Adolescent Medicine Hong Kong Children's HospitalHong Kong Special Administrative Region Hong Kong China

4. Department of Pathology Princess Margaret HospitalHong Kong Special Administrative Region Hong Kong China

5. Department of Paediatrics Kwong Wah HospitalHong Kong Special Administrative Region Hong Kong China

6. Department of Paediatrics and Adolescent Medicine United Christian HospitalHong Kong Special Administrative Region Hong Kong China

7. Department of Obstetrics and Gynaecology United Christian HospitalHong Kong Special Administrative Region Hong Kong China

8. Department of Obstetrics and Gynaecology Princess Margaret HospitalHong Kong Special Administrative Region Hong Kong China

9. Department of Obstetrics and Gyanecology Kwong Wah HospitalHong Kong Special Administrative Region Hong Kong China

10. Prenatal Diagnostic Laboratory Department of Obstetrics and Gynaecology Tsan Yuk HospitalHong Kong Special Administrative Region Hong Kong China

11. Department of Obstetrics and Gynaecology Queen Mary HospitalHong Kong Special Administrative Region Hong Kong China

Funder

Society for the Relief of Disabled Children

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

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