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Neuromuscular 07

Topic: Pathology

Created on Saturday, February 14 2009 by gliageek

Last modified on Saturday, February 14 2009.


Courtesy of Dr. Mark Cohen
This 4 year old boy with polymicrogyria showed mutation in which of the following proteins?

 
        A) Filamin-1
 
        B) Fukutin
 
        C) Dystrophin
 
        D) Calpain 3
 
        E) Collagen IV
 

 


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This question was created on February 14, 2009 by gliageek.
This question was last modified on February 14, 2009.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Filamin-1

This answer is incorrect.


Filamin 1 mutations are associated with periventricular nodular heterotopia with epilepsy, but do not cause dystrophic myopathy  (See References)

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B) Fukutin

This answer is correct.


Congenital dystrophic myopathy with cortical migration defects is characteristic of fukuyama muscular dystrophy  (See References)

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C) Dystrophin

This answer is incorrect.


Though patients with DMD/BMD often show subnormal IQ, this is not related to cortical migration defects  (See References)

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D) Calpain 3

This answer is incorrect.


In children, calpainopathy may manifest either as atrophy or eosinophilic myositis. CNS is not involved.  (See References)

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E) Collagen IV

This answer is incorrect.


Bethlem myopathy is characterized by contractures with proximal muscle weakness. Muscle biopsy does not show endomysial fibrosis. CNS is not involved.  (See References)

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References:

1. Graham, D.I., and Lantos, P.L. (2002). Greenfield's Neuropathology, 7th ed. Arnold Press, New York. (ISBN:0340742313)Advertising:
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pathology
Neuromuscular 07
Question ID: 021409132
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 02/14/2009
Modified: 02/14/2009
Estimated Permutations: 120

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