Table 2

Skeletal muscle and nerve channelopathies

Ion channel Disorder Inheritance Gene Chromosome
Voltage gated
PotassiumFamilial generalised myokymiaDominantKv1.112p
SodiumHyperPPDominantSCNA417q
Paramyotonia congenitaDominant
PAMDominant
CalciumHypoPPDominantCACLN1A31q
Malignant hyperthermiaDominant
CalciumCentral core diseaseDominantRYR119q
Malignant hyperthermiaDominant
ChlorideMyotonia congenitaCLCN17q
Thomsen's diseaseDominant
Becker's myotoniaRecessive
Potassium (cochlea)Jervell and Lange–Nielsen syndromeRecessiveKCNQ111p
(Long QT and deafness)RecessiveKCNE121q
Autosomal dominant deafness type 2DominantKCNQ41p
Calcium (retina)Stationary night blindnessX linkedCACNA1FXp
Ligand gated
Nicotinic acetylcholine receptorCongenital myastheniaDominant and recessiveCHRNA2q
CHRNG
CHRND
CHRNB17p
CHRNE
  • HyperPP, hyperkalaemic periodic paralysis; PAM, potassium aggravated myotonia; HypoPP, hypokalaemic periodic paralysis.