Neuromuscular 07

Topic: Pathology

Created on Saturday, February 14 2009 by gliageek

Last modified on Saturday, February 14 2009.

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

 

	= Go back to the top of the page.
	= Reload a different version of this question ().
	= Load a random question from the database.
	= Use this question as a template to create a totally NEW question.
	= Enter detailed rating for this question!
	= How users like you have rated this question.

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)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

B) Fukutin

This answer is correct.

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

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

C) Calpain 3

This answer is incorrect.

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

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

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)

Please log in if you want to rate questions.

 

 

 

 

 

 

 

 

 

---

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)

Please log in if you want to rate questions.

 

 

 

 

References:

1. Graham, D.I., and Lantos, P.L. (2002). Greenfield's Neuropathology, 7th ed. Arnold Press, New York. (ISBN:0340742313)

Advertising:

Please log in if you want to rate questions.

 

FrontalCortex.com -- Neurology Review Questions -- Neurology Boards -- Board Review -- Residency Inservice Training Exam -- RITE Exam Review
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