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Guidelines on clinical presentation and management of nondystrophic myotonias.
Stunnenberg BC, LoRusso S, Arnold WD, Barohn RJ, Cannon SC, Fontaine B, Griggs RC, Hanna MG, Matthews E, Meola G, Sansone VA, Trivedi JR, van Engelen BGM, Vicart S, Statland JM. Stunnenberg BC, et al. Muscle Nerve. 2020 Oct;62(4):430-444. doi: 10.1002/mus.26887. Epub 2020 May 27. Muscle Nerve. 2020. PMID: 32270509 Free PMC article. Review.
The nondystrophic myotonias.
Heatwole CR, Moxley RT 3rd. Heatwole CR, et al. Neurotherapeutics. 2007 Apr;4(2):238-51. doi: 10.1016/j.nurt.2007.01.012. Neurotherapeutics. 2007. PMID: 17395134 Free article. Review.
These diseases are divided into those with chloride channel dysfunction (the myotonia congenita disorders) and those with sodium channel dysfunction (paramyotonia congenita, potassium-aggravated myotonia, and hyperkalemic periodic paralysis with myotonia). Th …
These diseases are divided into those with chloride channel dysfunction (the myotonia congenita disorders) and those with sodium channel dys …
Inherited ion channel disorders.
Surtees R. Surtees R. Eur J Pediatr. 2000 Dec;159 Suppl 3:S199-203. doi: 10.1007/pl00014403. Eur J Pediatr. 2000. PMID: 11216900 Review.
These disorders include skeletal muscle sodium channelopathies causing hyperkalaemic periodic paralysis, paramyotonia congenita and potassium-aggravated myotonia. Skeletal muscle calcium channelopathies can cause hypokalaemic periodic paralysis, malignant hyp …
These disorders include skeletal muscle sodium channelopathies causing hyperkalaemic periodic paralysis, paramyotonia congenita and potas …
[Ion channel diseases in neurology].
Lerche H, Mitrovic N, Lehmann-Horn F. Lerche H, et al. Fortschr Neurol Psychiatr. 1997 Nov;65(11):481-8. doi: 10.1055/s-2007-996354. Fortschr Neurol Psychiatr. 1997. PMID: 9480290 Review. German.
Dependent on the inactivation parameter altered and the degree of the gain of function induced by a given mutation, the muscle episodically becomes hyper- or hypoexcitable (i.e. stiff or weak), particularly in response to elevated serum potassium (potassium-aggravated …
Dependent on the inactivation parameter altered and the degree of the gain of function induced by a given mutation, the muscle episodically …