Malformations 01

Topic: Anatomy

Created on Sunday, February 8 2009 by gliageek

Last modified on Sunday, February 8 2009.

 
        A) Doublecortin
 
        B) POMT1
 
        C) LIS1
 
        D) Filamin-1
 
        E) Tuberin
 

 

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This question was created on February 08, 2009 by gliageek.
This question was last modified on February 08, 2009.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) Doublecortin

This answer is incorrect.

Causes x-linked type 1 (non-cobblestone) lissencephaly  (See References)

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B) POMT1

This answer is correct.

Cobblestone lissencephaly is most often due to mutations involving dystroglycan glycosylation, and may be seen in Walker-Warburg syndrome (pictured here), muscle-eye-brain disease, and fukuyama muscular dystrophy  (See References)

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C) LIS1

This answer is incorrect.

Causes isolated lissencephaly sequence, and is involved in Miller-Dieker lissencephaly  (See References)

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D) Filamin-1

This answer is incorrect.

X-linked periventricular heterotopia  (See References)

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E) tuberin

This answer is incorrect.

Along with hamartin, one of the genes involved in tuberous sclerosis  (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)

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anatomy
Malformations 01
Question ID: 020809076
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 02/08/2009
Modified: 02/08/2009
Estimated Permutations: 120