Results 131 to 140 of about 10,373 (189)

Myotonia congenita (Thomsen's disease). (A case report)

The Turkish Journal of Pediatrics, 1968
V Baytok
doaj  

Treatment updates in myotonic disorders. [PDF]

J Neurol
Matthews E, Specterman MJ, Mul K.
europepmc   +1 more source

A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A. [PDF]

J Clin Neurol, 2016
Chung KW, Yoo DH, Lee SJ, Choi BO, Lee SS.   +4 more
europepmc   +1 more source

Myotonia congenita: novel mutations in CLCN1 gene. [PDF]

Channels (Austin), 2015
Liu XL, Huang XJ, Shen JY, Zhou HY, Luan XH, Wang T, Chen SD, Wang Y, Tang HD, Cao L.   +9 more
europepmc   +1 more source

Efficacy of sodium channel blockers in treating myotonia is independent of action potential sodium current block. [PDF]

J Physiol
Walker P, Foy B, Wang X, Pham KM, Myers J, Dupont C, Kohli S, Deardorff AS, Voss AA, Rich MM.   +9 more
europepmc   +1 more source

Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features. [PDF]

Korean J Physiol Pharmacol, 2017
Chin HJ, Kim CH, Ha K, Shin JH, Kim DS, So I.   +5 more
europepmc   +1 more source

The Overlap between Fibromyalgia Syndrome and Myotonia Congenita. [PDF]

J Clin Neurol, 2015
Nam TS, Choi SY, Park DJ, Lee SS, Kim YO, Kim MK.   +5 more
europepmc   +1 more source

Myotonia: Recognition, Evaluation, and Differential Diagnosis. [PDF]

Muscle Nerve
Crayle JI, Al-Lozi M, Miller TM.
europepmc   +1 more source

A clinical prediction rule for myotonia permanens associated with the <i>SCN4A</i> p.Gly1306Glu variant. [PDF]

Curr Res Neurobiol
Polanco DR, Almendras CJ, Lucero ML, Padilla Pérez O, Beytía Reyes MLA, Valdebenito IZ, Muller GB, Henríquez RE, Leal CPV, Rivera MS, Avila-Smirnow D.   +10 more
europepmc   +1 more source