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.
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Competing interests: Professor Michael Hanna is Deputy Editor of the Journal of Neurology Neurosurgery & Psychiatry but has had no role in the review process.
Funding: The work of BF is financially supported by ANR-maladies rares, AFM and INSERM and of GM by PRIN MIUR (Ministero Istruzione Università di Ricerca Scientifica) 2006. MGH is supported by an MRC Centre grant (G0601943).
Patient consent: Obtained.
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