Hallo,

In my case there s a strange problem.
Since many years i do suffer on cronical pain in the region of
the pectoral muscle of the right hemisphere..
Therefore a Biopsy was conducted, showing a reduction
of the protein Dysferline.
In General such a protein abnormality is associated with genetic deviations,
but the genetic bloodtest conducted afterwards did not show any genetic abnormality.
My question now is. What else could be a reason for a reduced amount of dysferlin.

Greetings from Austria

Anton
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replied May 4th, 2019
Thank you for asking at Ehealth forum!

I read your question and I understand your concern.
This deficiency usually doesn't manifest in early stages. Apart from limb girdle muscular dystrophy, Miyoshi myopathy and distal myopathy of anterior tibialis muscles ,there is no known associated disorders. But detecting this mutation is usually tedious and incomplete.
I hope it helps. Stay in touch with your healthcare provider for further guidance as our answers are just for education and counselling purposes and cannot be an alternative to actual visit to a doctor.
Take care
Khan


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