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Hereditary Motor and Sensory Neuropathies 03

Topic: Behavior

Created on Thursday, April 12 2007 by jdmiles

Last modified on Wednesday, August 17 2011.

Which of the following statements about Charcot-Marie-Tooth type 1A (CMT-1A) is true?

 
        A) CMT-1A is associated with chromosomal location 12q24.
 
        B) CMT-1A is associated with chromosomal location 4q12.
 
        C) CMT-1A is associated with Sphingomyelinase.
 
        D) CMT-1A is associated with peripheral myelin protein 22 (PMP-22)
 
        E) CMT-1A shows an axonal loss pattern on electrodiagnostic studies.
 

 


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This question was created on April 12, 2007 by jdmiles.
This question was last modified on August 17, 2011.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) CMT-1A is associated with chromosomal location 12q24.

This answer is incorrect.


CMT-1A is associated with chromosomal location 17p11.2-12. Distal hereditary motor neuropathy type II is associated with chromosomal location 12q24.   (See References)

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B) CMT-1A is associated with chromosomal location 4q12.

This answer is incorrect.


CMT-1A is associated with chromosomal location 17p11.2-12. Muscular dystrophy is associated with chromosomal location 4q12.   (See References)

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C) CMT-1A is associated with Sphingomyelinase.

This answer is incorrect.


CMT-1A is associated with peripheral myelin protein 22 (PMP-22). Sphingomyelinase is an enzyme which is deficient in Niemann-Pick disease type A.  (See References)

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D) CMT-1A is associated with peripheral myelin protein 22 (PMP-22)

This answer is correct.


CMT-1A is associated with a duplication of the gene for peripheral myelin protein 22 (PMP-22).   (See References)

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E) CMT-1A shows an axonal loss pattern on electrodiagnostic studies.

This answer is incorrect.


CMT-1A shows a demyelinating pattern on electrodiagnostic studies.   (See References)

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References:

1. Bashar Katirji... [et al.]. . Boston : Butterworth-Heinemann, c2002. (ISBN:0750671696)Advertising:
2. Saporta, A.S., Sottile, S.L., Miller, L.J., Feely, S.M., Siskind, C.E., and Shy, M.E. (2011). "Charcot-Marie-Tooth disease subtypes and genetic testing strategies." Ann Neurol, 69(1) 22-33. (PMID:21280073)
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behavior
Hereditary Motor and Sensory Neuropathies 03
Question ID: 081711137
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 04/12/2007
Modified: 08/17/2011
Estimated Permutations: 60480

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