Question:
Explain the molecular bases for dominant and recessive forms of Myotonia Congenita
Author: Donata NshimyicizanyeAnswer:
A313T mutation that causes dominant myotonia congenita shifts open probability of the channels to positive potentials by ~120 mV All mutations causing dominant form of disease shift Po to positive potentials Chemicals that induce myotonia in skeletal muscle (2,4-D; CPP) also shift Po to positive potentials All nonsense mutations and some missense mutations can cause recessive myotonia
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