Deletion of exons 5-7 or exon skipping 8
I am searching for families that have deletion of exons 5-7 or patients with any other mutation for which skipping of exon 8 would be good.
Andrea Lakatos's Page
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Profile Information
- About me:
- I am a chemist working at University of Szeged, Hungary. Presently I am working in Frankfurt am Main, Germany. I have a blog, written in hungarian, about my son and his disease: http://duchenne.freeblog.hu
- About my family:
- I have two sons, Peter 7 years old, Barnabas 4 years old. Barnabas was diagnosed with Duchenne at the age of 3. Peter is healthy. Barnabas has a deletion of exons 5-7 from its dystrophin gene which is a new mutation, I am not a carrier.
- Name(s) of child(ren)/individual(s) with Duchenne:
- Barnabas
- Age(s) of child(ren)/individual(s) with Duchenne:
- 4-6
- City and State:
- Szeged (Frankfurt am Main)
- Country:
- Hungary (Germany)
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thanks for your message and information about your son. I have lived in Frankfurt for 5 years, we moved from St.Petersburg, Russia. Actually I don't have any contacts with the families in Frankfurt, I tried to establish them but I didn't get any feedback. I'm a member of the Deutsche Gesellschaft fuer Muskelkranke, the main office is in Freiburg. In Frankfurt a monthly meeting of members or non-members takes place every first Thursday in Preugnesheim. I used to go there but now I don't. If you need more information may be it will be better if you call me and we meet because I have a lot of information that I receive from this DGM society and that will be usefult for you. My son is alreay 23, he has Becker MD, he was examined in Wiesbaden at the Klinik fuer Diagnistik by Dr.Schrank. You can also apply to the University Klinik; so my telephone number: 069 20241763; mobile: 017663177040. Do not hesitate to contact me.
Regards,
Tatiana