Batten-Turner Congenital Myopathy

Batten-Turner Congenital Myopathy, also known as myotonia congenita, is related to myotonia and myotonic dystrophy, and has symptoms including muscular stiffness and lid lag. An important gene associated with Batten-Turner Congenital Myopathy is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Lamotrigine and Mexiletine have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and tongue, and related phenotypes are myotonia and emg abnormality