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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Children. M S And Mitochrondrial Myopathy. Genetic Study Showed Charcot Marie Tooth Disease, Defective TPRI , SCA, RECEPTOR RYRI Of Parents. Guide

A recent genetic study turned up 2 defective genes. only one disease do i have according to these tests, that is the charcot-marie-tooth disease. i have satisfactorly studied that. the other defective gene is TPRI -spinal cerebalum ataxia which I can't find any pertinent information on. also my husbands genetic study found a defective gene called RECEPTOR RYRI gene which I cannot find any information on. I want to understand these defective genes because my 2 children are symptomatic, one having M S and the other having Mitochrondrial Myopathy.
Mon, 3 Jun 2013
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Pediatrician,  's  Response
Hi,

Thank you for your query.

The genetic study may reveal the defective gene. However the manifestations will vary. One cannot expect to have the same manifestations in everyone with the same defective gene as other genes and parameters come into play.

I hope I have answered your query to your satisfaction.

Wishing you all the best.

Regards,

Rajiv K Khandelwal
http://goo.gl/SuCjl
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Children. M S And Mitochrondrial Myopathy. Genetic Study Showed Charcot Marie Tooth Disease, Defective TPRI , SCA, RECEPTOR RYRI Of Parents. Guide

Hi, Thank you for your query. The genetic study may reveal the defective gene. However the manifestations will vary. One cannot expect to have the same manifestations in everyone with the same defective gene as other genes and parameters come into play. I hope I have answered your query to your satisfaction. Wishing you all the best. Regards, Rajiv K Khandelwal http://goo.gl/SuCjl