The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Kit San YeungFlorrie N Y YuCheuk Wing FungSheila WongHencher H C LeeSharon T H FungGenevieve P G FungKwok Yin LeungWai Hang ChungYun Ting LeeVivian K S NgMullin H C YuJasmine L F FungMandy H Y TsangKelvin Y K ChanSophelia Hoi Shan ChanAnita S Y KanBrian Hon-Yin ChungPublished in: Molecular genetics & genomic medicine (2020)
Analysis of the KLHL40 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.