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Muscle fiber hyperexcitability
Description: Defect in chloride ion channels of the skeletal muscles
Symptoms : Hypertrophic skeletal muscles, delayed muscle relaxation, stiff and stilted gait, bunnyhop-type movement, increased respiratory sounds, dental abnormalities, prognathism
Age of onset : From a few weeks old
Frequency : 21,5% carriers
Gene involved : CLCN1
Tested mutation : c.803C>T
Transmission : Autosomal Recessive
Patent : -
Notes :
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