One of our regular posters here had a DNA test and found this mutation, discussed in this link, and my follow up answer:
https://www.neurotalk.org/1238782-post301.html
While this appears not to be very common, she is the first here to get definitive proof with that test. Don't expect a doctor to know much about this as it is still new information.
People here with muscle difficulties should also get their DNA tested to see if some metabolic genetic error is present which may be causing symptoms. This particular Biotin error, presents as muscular weakness and some acidosis from Lactic acid build up in the muscle cells. Janieg is heterozygous for this so has some limited function. If a person is homozygous (missing both copies of the gene) they manifest symptoms, as infants and young children. Adults with one missing gene, only, show symptoms in adulthood sporatically and during stress, either exercise or illness or traumas.
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All truths are easy to understand once they are discovered; the point is to discover them.-- Galileo Galilei
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Weezie looking at petunias 8.25.2017
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