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My son has a mutation in his gene snx27
Brain & Nervous System | Last Active: Jul 16, 2021 | Replies (5)Comment receiving replies
Hi @kdoggg333, welcome to Connect.
Here's some information from Mayo Clinic's Center for Personalized Medicine and the work we are doing in whole-genome sequencing http://mayoresearch.mayo.edu/center-for-individualized-medicine/clinomics-program.asp
Was your son's mutation discovered by exome sequencing? How does this mutation affect your son?
Replies to "Hi @kdoggg333, welcome to Connect. Here's some information from Mayo Clinic's Center for Personalized Medicine and..."
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My son was found to have the same genetic mutation. He has terrible pain and muscle weakness. They thought he had muscular dystrophy, then mitochondrial disease. No one has been able to help him so far.