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

ConclusionAnalysis of theKLHL40 c.1516A>C variant should be considered in prenatal diagnosis of Chinese pregnant patients with suspected congenital neuromuscular disorders or with significant family history of congenital myopathies.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1229?af=R

Source: Molecular Genetics & Genomic Medicine - April 29, 2020 Category: Genetics & Stem Cells Authors: Kit San Yeung, Florrie N. Y. Yu, Cheuk Wing Fung, Sheila Wong, Hencher C. H. Lee, Sharon T. H. Fung, Genevieve P. G. Fung, Kwok Yin Leung, Wai Hang Chung, Yun Ting Lee, Vivian K. S. Ng, Mullin H. C. Yu, Jasmine L. F. Fung, Mandy H. Y. Tsang, Tags: CLINICAL REPORT Source Type: research