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. 2009 May 5;72(18):1544–1547. doi: 10.1212/01.wnl.0000342387.65477.46

graphic file with name znl9990962160002.jpg

Figure 2 Diagrammatic representation of the alpha subunit of SCN4A with S4 segments and arginine residues known to be mutated highlighted

Novel arginine mutations reported here are boxed in gray. + indicates the number of positively charged residues in each S4 segment. *Note substitutions of R1448 cause a phenotype of paramyotonia congenita.