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The channelopathies are diseases caused by a mutation or mutations in genes coding for ion channel subunits or proteins that regulate them.

History


Channelopathies


There are a large number of distinct dysfunctions known to be caused by ion channel mutations. The genes for the construction of ion channels are highly conserved amongst mammals and one condition, hyperkalemic periodic paralysis, was first identified in the descendants of Impressive, a pedigree race horse.

The channelopathies of human skeletal muscle include hyper-, hypo- and normokalemic (high, low and normal potassium blood concentrations) periodic paralysis, myotonia congenita and paramyotonia congenita.

References


Channelopathy | Genetic disorders

Canalopathie

 

This article is licensed under the GNU Free Documentation License. It uses material from the "Channelopathy".

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