Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita
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چکیده
منابع مشابه
Muscle stiffness and electrical activity in paramyotonia congenita.
To investigate the pathomechanism of paramyotonic stiffness, the mechanogram of isometric finger force and the electromyogram of the flexor digitorum muscle were simultaneously recorded in five unrelated paramyotonia congenita patients. Cooling of the forearm provoked "spontaneous" electrical activity, but the accompanying force was less than 5% of the maximal voluntary isometric contraction am...
متن کاملA variety of paramyotonia congenita.
Paramyotonia congenita was first described by Eulenberg (1886). It is a rare, hereditary disorder of muscle in which severe loss of power is induced by degrees of cooling which are insufficient to affect normal muscle. Myotonia also appears on cooling. However, the paralysis produced by cooling distinguishes paramyotonia from Thomsen's disease. The weakness and myotonia can easily be produced u...
متن کاملParamyotonia congenita and skeletal sodium channelopathy.
Paramyotonia congenita, the major characteristics of which are cold-induced and exercise-induced myotonia, is an autosomal-dominant muscle disease which is classified into one of a group of muscle diseases, so-called muscle "sodium channelopathies" caused by missense mutations in the gene coding for the skeletal muscle sodium channel a-subunit (SCN4A) (1-4). Such muscle sodium channelopathies s...
متن کاملMutant channels contribute ,50% to Na1 current in paramyotonia congenita muscle
An important question in the pathophysiology of dominantly inherited diseases, such as channelopathies, is the level of expression of the mutant protein. In our study, we address this issue by comparing the gating defects of two human muscle NaF channel mutants (R1448C and R1448P) causing paramyotonia congenita in native muscle specimens from two patients with those of the same mutant recombina...
متن کاملMutant channels contribute <50% to Na+ current in paramyotonia congenita muscle.
An important question in the pathophysiology of dominantly inherited diseases, such as channelopathies, is the level of expression of the mutant protein. In our study, we address this issue by comparing the gating defects of two human muscle Na+ channel mutants (R1448C and R1448P) causing paramyotonia congenita in native muscle specimens from two patients with those of the same mutant recombina...
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ژورنال
عنوان ژورنال: Muscle & Nerve
سال: 2008
ISSN: 0148-639X,1097-4598
DOI: 10.1002/mus.20885