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Neuromuscular 09

Topic: Anatomy

Created on Saturday, February 14 2009 by gliageek

Last modified on Thursday, February 19 2009.


Courtesy of Dr. Mark Cohen
Diseases characterized by these ultrastructural features on muscle biopsy may show all of the following, EXCEPT:

 
        A) Maternal inheritance
 
        B) X-linked inheritance
 
        C) Duplications within regions of the mitochondrial genome
 
        D) Phenotypic variability within affected family members
 
        E) CNS disease
 

 


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This question was created on February 14, 2009 by gliageek.
This question was last modified on February 19, 2009.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS




A) Maternal inheritance

This answer is incorrect.


Typical of mitochondrial diseases resulting from mitochondrially encoded proteins   (See References)

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B) X-linked inheritance

This answer is correct.


Mitochondrial myopathy with X-linked inheritance has not been reported   (See References)

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C) Duplications within regions of the mitochondrial genome

This answer is incorrect.


Duplications within regions of the mitochondrial genome are characteristic of Kearn-Sayre syndrome   (See References)

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D) Phenotypic variability within affected family members

This answer is incorrect.


Cellular and tissue heterogeneity may result in widely varying phenotypes with a single mitochondrial mutation   (See References)

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E) CNS disease

This answer is incorrect.


CNS pathology is common in mitochondrial diseases   (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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anatomy
Neuromuscular 09
Question ID: 021409130
Question written by gliageek. (C) FrontalCortex.com 2006-2009, all rights reserved. Created: 02/14/2009
Modified: 02/19/2009
Estimated Permutations: 120

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