Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   2013 , Volume 7 , Number 4 (SUPPL.1); Page(s) 20 To 21.
 
Paper: 

PEARSON SYNDROME AND NEUROPATHY, ATAXIA AND RETINITIS PIGMENTOSA (NARP)

 
 
Author(s):  MAHVELATI SHAMSABADI FARHAD*
 
* PEDIATRIC NEUROLOGY RESEARCH CENTER, SHARIATI AVE, TEHRAN, IRAN
 
Abstract: 

Neurological syndromes are the most frequent clinical presentations of mitochondrial disorders, a group of human diseases characterized by defects of the mitochondrial energy output. Mitochondrial diseases are caused both by mutations, acquired or inherited, within mitochondrial DNA (mtDNA) and genetic inheritance. To date, more than 200 disease-causing point mutations to the mitochondrial genome have been reported.

 
Keyword(s): MITOCHONDRIA, DNA, DISORDERS, PEARSON SYNDROME, NARP
 
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