The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.,Molecular Genetics & Genomic Medicine

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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.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-04-30 , DOI: 10.1002/mgg3.1229
Kit San Yeung ₁ , Florrie N Y Yu ₂ , Cheuk Wing Fung ₃ , Sheila Wong ₃ , Hencher H C Lee ₄ , Sharon T H Fung ₅ , Genevieve P G Fung ₆ , Kwok Yin Leung ₂ , Wai Hang Chung ₇ , Yun Ting Lee ₈ , Vivian K S Ng ₉ , Mullin H C Yu ₁ , Jasmine L F Fung ₁ , Mandy H Y Tsang ₁ , Kelvin Y K Chan _{10,

11} , Sophelia H S Chan ₁ , Anita S Y Kan _{10,

11} , Brian H Y Chung ₁

Affiliation

Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong Kong, China.
Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Department of Paediatrics, Kwong Wah Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Department of Obstetrics and Gynaecology, United Christian Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Department of Obstetrics and Gynaecology, Princess Margaret Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Department of Obstetrics and Gyanecology, Kwong Wah Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Prenatal Diagnostic Laboratory, Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Hong Kong Special Administrative Region, Hong Kong, China.
Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, Hong Kong, China.

Autosomal recessive or compound heterozygous mutations in KLHL40 cause nemaline myopathy 8, which is one of the most severe forms of nemaline myopathy. The KLHL40 c.1516A>C variant has recently been reported as a founder mutation in southern Chinese.

更新日期：2020-07-06

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