Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese.
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DOI: 10.1093/jnen/nlz056
Abstract: KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The current study describes 4 cases of KLHL40-related nemaline myopathy in Hong Kong ethnic Chinese presenting within 3 years, which are confirmed with clinicopathologic features and… read more here.
Keywords: founder; klhl40; ethnic chinese; nemaline myopathy ... See more keywords