Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans

• Published in: The Journal of physiology Vol. 554; no. 3; pp. 635 - 647
• Main Authors: Bouhours, Magali, Sternberg, Damien, Davoine, Claire‐Sophie, Xavier, Ferrer, Willer, Jean Claude, Fontaine, Bertrand, Tabti, Nacira
• Format: Journal Article
• Language: English
• Published: 9600 Garsington Road , Oxford , OX4 2DQ , UK The Physiological Society 01.02.2004; Blackwell Publishing Ltd; Wiley; Blackwell Science Inc
• Subjects: Adult; Alanine; Amino Acid Substitution; Animal biology; Cell Line; Cold; Cold Temperature; Electrophysiology; Female; Humans; Kinetics; Life Sciences; Muscle, Skeletal; Muscle, Skeletal - metabolism; Mutation, Missense; Myotonic Disorders; Myotonic Disorders - genetics; Myotonic Disorders - metabolism; NAV1.4 Voltage-Gated Sodium Channel; Pedigree; Phenotype; Research Papers; Sodium Channels; Sodium Channels - genetics; Sodium Channels - metabolism; Sodium Channels - physiology; Temperature; Threonine; Time Factors; Veterinary medicine and animal Health

Paramyotonia congenita (PC) is a dominantly inherited skeletal muscle disorder caused by missense mutations in the SCN4A gene encoding the pore-forming α subunit (hSkM1) of the skeletal muscle Na + channel. Muscle stiffness is the predominant clinical symptom. It is usually induced by exposure to c...