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

 


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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) 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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B) 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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C) Fukutin

This answer is correct.


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

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D) 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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E) 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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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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