Article
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 - 1 Jul 2020
Yeung Kit San, Yu Florrie N Y, Fung Cheuk Wing, Wong Sheila, Lee Hencher H C, Fung Sharon T H, Fung Genevieve P G, Leung Kwok Yin, Chung Wai Hang, Lee Yun Ting, Ng Vivian K S, Yu Mullin H C, Fung Jasmine L F, Tsang Mandy H Y, Chan Kelvin Y K, Chan Sophelia H S, Kan Anita S Y, Chung Brian H Y
Abstract excerpt
BACKGROUND: 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. METHODS: We report six cases of nemaline myopathy 8 which involves the c.1516A>C variant, from five unrelated families of non-consanguineous southern...
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