Myotonia congenita (MC): clinical features

Evidence-based neurology checklist on myotonia congenita (mc): clinical features: Genetics This is caused by mutations in the CLCN1 gene on chromosome 7q The gene encodes the voltage-gated chloride channel protein ClC-1 The transmission may be autosomal recessive or dominant Genetic types Clinical…

Genetics

  • This is caused by mutations in the CLCN1 gene on chromosome 7q
  • The gene encodes the voltage-gated chloride channel protein ClC-1
  • The transmission may be autosomal recessive or dominant

Genetic types

Clinical features

Triggers for myotonia

References

  1. Meola G, Hanna MG, Fontaine B. Diagnosis and new treatment in muscle channelopathies. JNNP 2009; 80:360-365.
  2. Platt D, Griggs R. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. Curr Opin Neurol 2009; 22:524-531. 
  3. Morrow JM, Matthews E, Raja Rayan DL, et al. Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. Neuromuscul Disord 2013; 23:637-646.
  4. Trivedi JR, Bundy B, Statland J, et al. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain 2013; 136:2189-2200.
  5. Matthews E, Fialho D, Tan SV, et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain 2010; 133:9-22.
  6. And 3 more. Subscribe to see the full list

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