Results 61 to 70 of about 1,125 (172)
, 1998 The F1473S mutation of the adult human skeletal muscle Na+ channel causes paramyotonia congenita, a disease characterized by muscle stiffness sometimes followed by weakness in a cold environment.
Deymeer, F +4 more
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Muscle channelopathies and electrophysiological approach
Annals of Indian Academy of Neurology, 2008 Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness.
Cherian Ajith +2 more
doaj
A VARIETY OF PARAMYOTONIA CONGENITA [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1957 E B, FRENCH, R, KILPATRICK
openaire +2 more sources
Correlating phenotype and genotype in the periodic paralyses
, 2004 BACKGROUND: Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized as causing disease.
Servidei, Serenella
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, 2018 SCN4A variations have been identified in various neuromuscular disorders, which are collectively named “sodium channelopathies”. Abstract We report the case of a patient who presented paramyotonia congenita with motor paroxysmal episodes since the ...
Grazia Gabriella Salerno +5 more
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Multiple sclerosis and non-dystrophic myotonias: Do they share a common pathophysiology?
, 2018 Some patients with multiple sclerosis (MS) complain of symptoms, suchas myokymia, myotonia, spasms, and stiffness, which have been demonstrated to be due to a concurrent non-dystrophic myotonia, i.e. myotonia congenita or paramyotonia congenita.
Bramanti A. +8 more
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, 1987 A 43 year old engineer had weakness from childhood. First noted at age five when he became paralyzed for three days after exposure to extreme cold.
Thomas J. Carlow
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