Trinucleotide Repeat Diseases 01

Topic: Pediatric

Created on Sunday, February 25 2007 by jdmiles

Last modified on Sunday, February 25 2007.

 
        A) Juvenile myoclonic epilepsy
 
        B) Canavan leukodystrophy
 
        C) Krabbe's leukodystrophy
 
        D) Acute intermittent porphyria
 
        E) Myotonic dystrophy
 

 

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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

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A) Juvenile myoclonic epilepsy

This answer is incorrect.

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

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B) Canavan leukodystrophy

This answer is incorrect.

Canavan leukodystrophy is not associated with a trinucleotide repeat expansion.  (See References)

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C) Krabbe's leukodystrophy

This answer is incorrect.

Krabbe's leukodystrophy is not associated with a trinucleotide repeat expansion.  (See References)

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D) Acute intermittent porphyria

This answer is incorrect.

Acute intermittent porphyria is not associated with a trinucleotide repeat expansion.  (See References)

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E) Myotonic dystrophy

This answer is correct.

Myotonic dystrophy is associated with a CTG 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