Suzanne,

Jenna gave you a good explanation about dominant vs recessive and how it seems rules are made to be broken :-)

If you want to email me a copy of your DNA report I can check a database and see if your particular mutation has been associated with clinical symptoms. I can also ask a professional geneticist.

If you had your testing done at Athena, they have made mistakes in the past regarding the association of a mutation (dominant or recessive). Your doctor would know any differently...he's just going by the report.

Jan

Type of Myotonia: Thomsen's

Country: USA