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Genetic testing

  : : I have had some contoverted muscle biopsy results for central core disease. through other postings I've seen the university of Missouri identifies some genes associated
  : :  with the condition. Further postings identify the University of toronto biochem dept as having done some work in this area. However when i call them I either get a clerical or grad student neither of whom seem to have a clue as to what the condition is or who to speak to to see if they can or would do testing. Any idea of a commercial lab or someone I can contact to get this testing done? Also, at a recent family get together discovered there is some family history for limb girdle disease. is there a blood or gene test for this condition or is it mainly clinical observation?
  : Dear MRK:
  : Let me answer your question on Limb-Girdle muscular dystrophy.  There are several forms of Limb-girdle involving different genes.  Unless you know which gene defect is involved it would be hard to know if you have the mutation.  Most of the forms of Limb-girdle are autosomal recessive, at least those where the gene has been isolated.  In some forms of Limb-girdle muscular dystrophy, only the area of the chromosome is known and obviously it would be difficult to test.  
  : As you know, central core disease is a rare but distinct genetic entity that is transmitted by autosomal dominant inheritance.  The gene locus is on chromosome 19q13 and may be allelic with the gene for malignant hyperthermia.  However, the gene has not been cloned as far as I know.  Thus, there is no genetic test available yet.  
  : What you may want to do is contact the Muscular Dystrophy Association about the current standing of research in this area and the above Limb-Girdle dystrophy.  Most research labs do not provide general diagnostic testing.  That is why when you call labs and a graduate student answers, they are not aware of testing.
  : Sorry I couldn't help with more information or specific centers for testing.  The state of current research in these two diseases haven't reached the state for generalized testing yet.
  : Sincerely,
  : CCF Neuro[P] MD, RPS  
Dear MRK:
There is still no consensus that the ryanodine receptor-1 gene is the mutation responsible for Central Core Disease of Muscle.  The is good evidence that this is true, but not every expert in the field agree.  Some soft evidence exists that there may be another gene involved, the beta-myosin heavy chain gene (MYH7).  Until a consenses is reached, I don't that a test would yield the results you wanted.  Until it is proven without any reservations, I doubt a commerical test will be available.  What is known, the pathology is consistent.  Only type I muscle fibers show central cores.  Based on the muscle histology and your clinical symptoms the diagnosis is made.  If you want a genetic test to be run, I would contact the muscular dystrophy assoc. and ask them which research lab would be willing to test you for the ryanodine receptor or beta mysoin heavy-chain.  As a researcher, getting "cold" calls requesting testing usually results in frustration for the caller.  That would be my suggestion.  I will see if the person who initially answered your request (?) knows about the lab in Missouri or University of Toronto who perform these tests.
CCF Neuro[P] MD, RPS

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