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neurogenetic syndromes

Topic: Adult

Created on Saturday, September 2 2006 by

Last modified on Saturday, September 2 2006.

Which of the following statements regarding neurogenetic syndromes is FALSE?

 
        A) Nemaline myopathy is associated with chromosomal location 6p21.
 
        B) Congenital fibrosis of the extraocular muscles is associated with chromosomal location 12cen.
 
        C) Usher syndrome type 2 is associated with chromosomal location 1q.
 
        D) Bethlem myopathy is associated with chromosomal location 21q22.3.
 
        E) FSH muscular dystrophy is associated with chromosomal location 4q35-ter.
 

 


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This question was created on September 02, 2006 by .
This question was last modified on September 02, 2006.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) nemaline myopathy is associated with chromosomal location 6p21.

This answer is correct.


The statement, "nemaline myopathy is associated with chromosomal location 6p21." is false.
nemaline myopathy is associated with chromosomal location 2q21.2-q22.  (See References)

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B) congenital fibrosis of the extraocular muscles is associated with chromosomal location 12cen.

This answer is incorrect.


The statement, "congenital fibrosis of the extraocular muscles is associated with chromosomal location 12cen." is true.
congenital fibrosis of the extraocular muscles is associated with chromosomal location 12cen.  (See References)

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C) Usher syndrome type 2 is associated with chromosomal location 1q.

This answer is incorrect.


The statement, "Usher syndrome type 2 is associated with chromosomal location 1q." is true.
Usher syndrome type 2 is associated with chromosomal location 1q.  (See References)

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D) Bethlem myopathy is associated with chromosomal location 21q22.3.

This answer is incorrect.


The statement, "Bethlem myopathy is associated with chromosomal location 21q22.3." is true.
Bethlem myopathy is associated with chromosomal location 21q22.3.  (See References)

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E) FSH muscular dystrophy is associated with chromosomal location 4q35-ter.

This answer is incorrect.


The statement, "FSH muscular dystrophy is associated with chromosomal location 4q35-ter." is true.
FSH muscular dystrophy is associated with chromosomal location 4q35-ter.  (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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adult
neurogenetic syndromes
Question ID: 095325505
Question written by . (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 09/02/2006
Modified: 09/02/2006
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