Myotonia Congenita, Dominant (Thomsen)

Overview

●CLCN Dominant History: First description 1876 Arch Psychiat Nervenkr 6, 702-718 Julius Thomsen Danish physician Reported myotonia congenita in himself & his family "Tonische Krämpfe in willkürlich beweglichen Muskein in Folge von ererbter psychischer Disposition." Myotonia congenita: Epidemiology Most common skeletal muscle channelopathy Prevalence in England: 0.52/100,000 Similar prevalence of: Dominant; Recessive & Sporadic MC Genetic features Mutations 65 > 95 identified General location: TM1 domain; Not in intracellular domain Most mutations: Missense; Loss of function Common mutations: G

OMIM Entries

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