The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes-Reference-Cited by-同舟云学术

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

Published:2020-04-30 Issue:7 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Yeung Kit San¹,Yu Florrie N. Y.²^ORCID,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.¹^ORCID,Kan Anita S. Y.¹⁰¹¹,Chung Brian H. Y.¹^ORCID

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1229

Reference16 articles.

1. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene

2. Congenital myopathies: Characteristics and subtypes in Hong Kong

3. Sarcomere Dysfunction in Nemaline Myopathy

4. Serial postural and motor assessment of Fetal Akinesia Deformation Sequence (FADS)

5. A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35

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