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Myotonia Congenita, Christoph Lossin, Alfred George

Christoph Lossin, Ph.D.

Myotonia is a symptom of many different acquired and genetic muscular conditions that impair the relaxation phase of muscular contraction. Myotonia congenital is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations invCLCN1, the gene coding for the main skeletal muscle chloride channel ClC-1.The disorder may be transmitted as either an autosomal-dominant or recessive trait with close to 130 currently known mutations. Although this is a rare disorder, elucidation of the pathophysiology underlying myotonia congenital established the importance of sarcolemmal chloride conductance in the control of muscle excitability and demonstrated the first …