Dr Cannon is Associate Dean of Medicine at the University of Texas Southwestern in Dallas.

Type of Myotonia: SCN4a

Country: US

Thanks, Joe. I emailed him and he responded right away. He said that the amino acid change is in a region of the gene that could impact the channel function. It hasn't been associated yet as disease-causing in research studies, but it would certainly explain our greater sensitivity to potassium and cold as well as weakness that isn't typically seen as much in MC.

Jan

Type of Myotonia: Thomsen's

Country: USA