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Papponen H, Nissinen M, Kaisto T, Myllylä VV, Myllylä R, Metsikkö K. F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1. Muscle Nerve. 2008 Mar;37(3):317–25. doi: 10.1002/mus.20922. PMID: 17990293. |