The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung KS, Yu FNY, Fung CW, Wong S, Lee HHC, Fung STH, Fung GPG, Leung KY, Chung WH, Lee YT, Ng VKS, Yu MHC, Fung JLF, Tsang MHY, Chan KYK, Chan SHS, Kan ASY, Chung BHY.
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Mol Genet Genomic Med. 2020 Jul;8(7):e1229. doi: 10.1002/mgg3.1229. Epub 2020 Apr 30.
Mol Genet Genomic Med. 2020.
PMID: 32352246
Free PMC article.