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Trinucleotide Repeat Diseases 01

Topic: Pediatric

Created on Sunday, February 25 2007 by jdmiles

Last modified on Sunday, February 25 2007.

Which of the following disorders is associated with a trinucleotide repeat expansion?

 
        A) Ataxia telangiectasia
 
        B) Myotonic dystrophy
 
        C) Charcot-Marie-Tooth type 1
 
        D) Niemann-Pick type C
 
        E) Juvenile myoclonic epilepsy
 

 


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This question was created on February 25, 2007 by jdmiles.
This question was last modified on February 25, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Ataxia telangiectasia

This answer is incorrect.


Ataxia telangiectasia is not associated with a trinucleotide repeat expansion.  (See References)

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B) Myotonic dystrophy

This answer is correct.


Myotonic dystrophy is associated with a CTG repeat expansion.  (See References)

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C) Charcot-Marie-Tooth type 1

This answer is incorrect.


Charcot-Marie-Tooth type 1 is not associated with a trinucleotide repeat expansion.  (See References)

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D) Niemann-Pick type C

This answer is incorrect.


Niemann-Pick type C is not associated with a trinucleotide repeat expansion.  (See References)

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E) Juvenile myoclonic epilepsy

This answer is incorrect.


Juvenile myoclonic epilepsy is not associated with a trinucleotide repeat expansion.  (See References)

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References:

1. Bird, T.D., and Tapscott, S.J. K.M. (2004). Clinical Neurogenetics. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, 4th Edition. Butterworth Heinemann, Philadelphia. Pp. 781-808.
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pediatric
Trinucleotide Repeat Diseases 01
Question ID: 022507097
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/25/2007
Modified: 02/25/2007
Estimated Permutations: 19734000

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