Genetics and physiology of the myotonic muscle disorders

LJ Ptacek, KJ Johnson, RC Griggs - New England Journal of …, 1993 - Mass Medical Soc
LJ Ptacek, KJ Johnson, RC Griggs
New England Journal of Medicine, 1993Mass Medical Soc
The myotonic muscle disorders represent a heterogeneous group of clinically similar
diseases sharing the feature of myotonia: delayed relaxation of muscle after voluntary
contraction (action myotonia) or mechanical stimulation (percussion myotonia). In classic
myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia
(paramyotonia) it worsens with repeated muscle contractions. Electrophysiologically,
myotonia is characterized by the repetitive electrical activity of muscle fibers. Two decades of …
The myotonic muscle disorders represent a heterogeneous group of clinically similar diseases sharing the feature of myotonia: delayed relaxation of muscle after voluntary contraction (action myotonia) or mechanical stimulation (percussion myotonia). In classic myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia (paramyotonia) it worsens with repeated muscle contractions. Electrophysiologically, myotonia is characterized by the repetitive electrical activity of muscle fibers. Two decades of work on the electrophysiology of myotonia focused attention on the muscle cell membrane as the site of the molecular defects of these diseases. Genetic-linkage studies have now pinpointed the lesions to chromosomal loci . . .
The New England Journal Of Medicine