Supposedly, intronic mutations don’t do anything.
However, we know several people who are affected, some of whom have the same symptoms as us and many others Fabrys, but still do not receive any therapy. Some even have low alpha-galactosidase levels.
You can find a contribution to this under the “Intronic mutations” submenu under the Controversial mutations.
There are two new patient reports.
New in our media library:
- A podcast on the misdiagnosis “Psychosomatic” (German)
- And there is a book recommendation about misdiagnosis in women. (English)