La Revue de medecine interne · 1999
[Ion-channel related muscular diseases].
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Аннотация
INTRODUCTION: Though ion channel-related muscular disorders were described long ago, better understanding of their underlying mechanisms has been more recently achieved. These mechanisms include myotonic syndromes that may be caused by mutations in sodium and chloride channels, as well as periodic paralysis which is due to mutations in sodium and calcium channels.
CURRENT KNOWLEDGE AND KEY POINTS: Knowledge of the involved pathophysiological mechanisms has led to better clinical description of these disorders, as well as more efficacious treatment. In some cases, it is now possible to establish the diagnosis, using genetic tests.
FUTURE PROSPECTS AND PROJECTS: Other neuromuscular disorders might be related to ion channel mutations.
CURRENT KNOWLEDGE AND KEY POINTS: Knowledge of the involved pathophysiological mechanisms has led to better clinical description of these disorders, as well as more efficacious treatment. In some cases, it is now possible to establish the diagnosis, using genetic tests.
FUTURE PROSPECTS AND PROJECTS: Other neuromuscular disorders might be related to ion channel mutations.