Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium.
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Brain. 2013 Jul;136(Pt 7):2189-200. doi: 10.1093/brain/awt133. Epub 2013 Jun 13.
Brain. 2013.
PMID: 23771340
Free PMC article.
In comparison with chloride channel mutations, participants with sodium mutations had an earlier age of onset of stiffness (5 years versus 10 years), frequent eye closure myotonia (73.5% versus 25%), more impairment on the Individualized Neuromuscular Quality of Life summary scor …
In comparison with chloride channel mutations, participants with sodium mutations had an earlier age of onset of stiffness (5 years versus 1 …