Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-017-0065-3
Abstract: Myotonia congenita is a genetic disease of skeletal muscle membrane hyperexcitability caused by variants in CLCN1, leading to reduced conductance of the main skeletal muscle chloride channel (ClC-1) [1]. This disorder can be inherited in… read more here.
Keywords: thomsen disease; myotonia congenita; autosomal dominant; disease ... See more keywords