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HK - Periodic Hypokalaemic Polymyopathy

Episodic muscle weakness

Bombay

HK - Periodic Hypokalaemic Polymyopathy

Episodic muscle weakness

Description: Episodes of low serum potassium levels leading to muscle damages

Symptoms : Episodic muscle weakness, muscle pain, ventroflexion of the head and neck, locomotor difficulties

Age of onset : Between 2 and 10 months old

Frequency : Not available

Gene involved : WNK4

Tested mutation : c.2899C>T

Transmission : Autosomal Recessive

Patent : -

Notes :

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