Chapter 2 Myotonia Congenita

Christoph Lossin*, Alfred L. George

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

85 Scopus citations

Abstract

Myotonia is a symptom of many different acquired and genetic muscular conditions that impair the relaxation phase of muscular contraction. Myotonia congenita is a specific inherited disorder of muscle membrane hyperexcitability caused by reduced sarcolemmal chloride conductance due to mutations in CLCN1, 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 congenita established the importance of sarcolemmal chloride conductance in the control of muscle excitability and demonstrated the first example of human disease associated with the ClC family of chloride transporting proteins.

Original languageEnglish (US)
Pages (from-to)25-55
Number of pages31
JournalAdvances in Genetics
Volume63
DOIs
StatePublished - 2008

ASJC Scopus subject areas

  • Genetics

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