![Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese]()
Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic ChineseLee, Han-Chih Hencher; Wong, Shun; Leung, Frank Ying-Kit; Ho, Luen-Cheung; Chan, Siu-Ki Timothy; Fung, Tsui-Hang Sharon; Kwan, Kwok-Fan; Yau, Kin-Cheong Eric; Li, Ka-Wah; Yau, Wai-Nang; Leung, Hoi-Ki Cynthia; Chen, Sammy Pak-Lam; Mak, Chloe Miu · Journal of Neuropathology & Experimental Neurology · 2019