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Mutations...

It seems or looks like my son Francis' mutation is very rare and I wanted to know if anyone elses son might have the same mutation. My sons mutation is:
IVS55-1 or HEMIZYGOUS IVS55-1G>C MUTATION
Maybe I'm grassping at straws, but all of a sudden I am feeling alone again. I just need a little advice and/or help from anyone. Just a little direction. Maybe I will just call the PPMD office.

Suzanne

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Permalink Reply by Sara Savalli on November 15, 2008 at 11:28pm

maybe a grenetic dr. could tell you more

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Permalink Reply by Keith Van Houten on November 20, 2008 at 9:23pm

Did you find an answer to your question? The test result we got was very clear - it called out a deletion and the exon effected...

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Permalink Reply by Jennifer Collier on November 21, 2008 at 8:15am

We also were told a mutation and the exon affected. (frameshift mutation of exon 38) But it too has never been detected. I know the feeling of being alone as well.

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Permalink Reply by Paul Cliff on November 23, 2008 at 10:25pm

I recommend registering at Duchenne Connect. They will put you in touch with a geneticist who can talk to you about this further. https://www.duchenneconnect.org/

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Permalink Reply by Suzanne Desmond on November 24, 2008 at 9:53am

Thank you so much to everyone who answered me. I have talked to a Genetic Counselor at my local Childrens Hospital. She was very helpful, but I don't know if I totally understand, but I think I'm at least 80% there. Maybe the more I talk to people about it the better I will understand it. She checked with Baylor College in Houston, Texas. They told her that his mutation has never been reported. She also suggested some literature to read on how normal/healthy muscle structure works. Maybe no one else has been diagnosed with his particular mutation, but if anyone else's son has a similar mutation to his maybe we could talk and help one another find answers. I will go to Duchenne Connect and get hooked up, thank you for the suggestion.
His mutation is Hemizygous IVS55-1G>CMutation
Suzanne