Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis
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DOI: 10.4103/0366-6999.225061
Abstract: Myotonia congenita (MC) is a group of genetically and clinically heterogeneous congenital neuromuscular channelopathies, typically characterized by the delayed relaxation of the muscles after voluntary contraction, stiffness, hypertrophy, transient weakness, and cramping. MC is caused… read more here.
Keywords: myotonia congenita; novel mutations; channel; mutations scn4a ... See more keywords