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Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

Archive ouverte | Poulin, Hugo | CCSD

International audience. Mutations in Na V 1.4, the skeletal muscle voltage-gated Na + channel, underlie several skeletal muscle channelopathies. We report here the functional characterization of two substitutions ta...

A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs

Archive ouverte | Kokunai, Yosuke | CCSD

International audience. Periodic paralyses (PP) are characterized by episodic muscle weakness and are classified into the distinct hyperkalaemic (hyperPP) and hypokalaemic (hypoPP) forms. The dominantly-inherited fo...

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Archive ouverte | Bauché, Stéphanie | CCSD

International audience. The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMS5), a clinica...

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