The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

ABSTRACT: The non-dystrophic myotonias are an important group of skeletal muscle channelopathies electrophysiologically characterized by altered membrane excitability. Many distinct clinical phenotypes are now recognized and range in severity from severe neonatal myotonia with respiratory compromise through to milder late-onset myotonic muscle stiffness. Specific genetic mutations in the major skeletal muscle voltage gated chloride channel gene and in the voltage gated sodium channel gene are causative in most patients. Recent work has allowed more precise correlations between the genotype and the electrophysiological and clinical phenotype. The majority of patients with myotonia have either a primary or secondary loss of membrane chloride conductance predicted to result in reduction of the resting

SUBMITTER: Matthews E 

PROVIDER: S-EPMC2801326 | biostudies-literature | 2010 Jan

REPOSITORIES: biostudies-literature