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Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita [PDF]
Muscle and Nerve, 2008 Contains fulltext : 71197.pdf (Publisher’s version ) (Closed access)In this study we investigated a family with paramyotonia (PC) congenita caused by a Gly1306Val mutation in the voltage-gated sodium-channel gene SCN4A. A previous study
Machiel Zwarts +2 more
exaly +2 more sources
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Efficacy of propafenone in paramyotonia congenita
Neurology, 2007Paramyotonia congenita (PC) is an autosomal dominant condition with high penetrance linked to SCN4A .1 It is characterized by myotonic stiffness that paradoxically worsens with repeated contractions and with exposure to cold and by episodes of spontaneous or cold-induced paralysis.
Alfonsi E +6 more
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Paramyotonia congenita (Eulenburg)
Zeitschrift f�r Neurologie, 1972The case of a 71 years old male patient with paramyotonia congenita is described. There was no occurence of spontaneous paresis at room temperature. Lowering the temperature, a loss of muscle power became perceivable in the mechanogram while, at the beginning there was only a slight depression in amplitude of the evoked action potential.
K, Ricker, H M, Meinck
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Journal of Neurology, 1979
The present paper describes the clinical, electrophysiological and histological findings made in 12 patients belonging to 2 genealogical lineages in Switzerland, suffering from paramyotonia congenita. This is the first report of this disease in Switzerland.
E, Wegmüller +2 more
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The present paper describes the clinical, electrophysiological and histological findings made in 12 patients belonging to 2 genealogical lineages in Switzerland, suffering from paramyotonia congenita. This is the first report of this disease in Switzerland.
E, Wegmüller +2 more
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A Study of Paramyotonia Congenita
JAMA: The Journal of the American Medical Association, 1963This report discusses the status of the paramyotonia congenita described by Eulenberg 1 with relation to other types of myotonia. The classification of myotonic disorders has caused controversy for decades. The dispute has arisen primarily over whether myotonic dystrophy and myotonia congenita should be identified as separate diseases or merely ...
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Membrane defects in paramyotonia congenita (eulenburg)
Muscle & Nerve, 1987AbstractMembrane potentials, current‐voltage relationships, and component conductances were determined in resting excised external intercostal muscle fibers from five patients with paramyotonia congenita. At 37°C all investigated parameters were normal. At 27°C the resting potentials decreased to about −40 mV, and the fibers were inexcitable.
F, Lehmann-Horn, R, Rüdel, K, Ricker
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