Data di Pubblicazione:
2009
Citazione:
Diagnosis and new treatment in muscle channelopathies / G. Meola, M.G. Hanna, B. Fontaine. - In: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. - ISSN 0022-3050. - 80:4(2009 Apr), pp. 360-365. [10.1136/jnnp.2008.164046]
Abstract:
The skeletal muscle fibre membrane plays a major role in muscle contraction by generating and propagating action potentials, and linking the latter to the release of intracellular calcium stores which triggers mechanical contraction. This function relies on the proper functioning of ion channels. In the last two decades, diseases caused by mutations in muscle ion channel genes have been identified, the so-called muscle channelopathies. Even though the pathophysiology of muscle channelopathies is not completely elucidated, major advances have been made in their understanding, thus linking patient symptoms and neurophysiology with abnormal functioning of the muscle membrane. This has facilitated significant progress both in the diagnosis of these disorders and in the rationale for therapeutic intervention. In this review, we will focus on diagnosis and treatments of muscle channelopathies of relevance to the clinical neurologist.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
hypokalemic periodic paralysis; sodium-channel mutations; Andersen-Tawil-syndrome; skeletal-muscle; paramyotonia-congenita; chloride channel; nondystrophic myotonias; alpha-subunit; gene SCN4A; potassium
Elenco autori:
G. Meola, M.G. Hanna, B. Fontaine
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