Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel α subunit—a large …
P Kelly, WS Yang, D Costigan, MA Farrell… - Neuromuscular …, 1997 - Elsevier
Paramyotonia congenita (PC) and Hyperkalemic periodic paralysis (HyperPP) are caused
by amino acid substitutions in the α subunit of the human skeletal muscle sodium channel.
One such substitution, methionine for valine at position 1592, has been associated with
HyperPP with myotonia and cold sensitivity. We report clinical, electromyographic (EMG),
genetic and pathological features of a large kindred with the Met1592Val substitution.
Affected members were phenotypically heterogenous and had episodic potassium-sensitive …
by amino acid substitutions in the α subunit of the human skeletal muscle sodium channel.
One such substitution, methionine for valine at position 1592, has been associated with
HyperPP with myotonia and cold sensitivity. We report clinical, electromyographic (EMG),
genetic and pathological features of a large kindred with the Met1592Val substitution.
Affected members were phenotypically heterogenous and had episodic potassium-sensitive …