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Old 06-25-2014, 09:39 AM
Kitt Kitt is offline
Grand Magnate
 
Join Date: Aug 2006
Posts: 4,432
15 yr Member
Kitt Kitt is offline
Grand Magnate
 
Join Date: Aug 2006
Posts: 4,432
15 yr Member
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Quote:
Originally Posted by windypetunia View Post
Thanks Kitt, will do. I suspected HNPP based on symptoms, but doesn't it typically result in EMG/NCV abnormalities? I have 2 little ones so I'm really hoping it's not something I've potentially passed on.
Here is a good site concerning HNPP. It can help with many of your questions. Explore the whole site. It is an interesting site.

http://www.hnpp.org/

One point is that CMT has an extra copy of PMP22 and HNPP has a deletion (loss of copy) of PMP22 on the same chromosome where CMT has a duplication.

http://www.hnpp.org/genetics.htm
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"Thanks for this!" says:
windypetunia (06-26-2014)