IndraLab

Statements

Mutated SCN4A activates CNBP. 2 / 2
| 2
reach
"The additive effects of CLCN1 missplicing and CLCN1 or SCN4A mutation cause an atypical DM2 phenotype characterized by severe and early myotonia XREF_BIBR - XREF_BIBR."
30038349
reach
"These observations suggest that CLCN1 or SCN4A mutations may contribute to exaggerate the DM2 phenotype in these patients who could be more easily identified and diagnosed than DM2 patients without the modifier gene."
27858759