Document Detail


Mitochondrial encephalomyopathies and related syndromes: brief review.
MedLine Citation:
PMID:  19334348     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A brief and comprehensive review on mitochondrial cytopathies is reported showing the extreme clinical and genetic heterogeneity of these disorders. Syndromes of mitochondrial cytopathiesencompass most of the medical specialties and diagnosis of mitochondrial cytopathies is complicated,needing the combination of multiple expertise: muscle morphology, neuroradiology, biochemistry(enzymology, chemical analysis), and genetics.
Authors:
Enrico Bertini; Adele D'Amico
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Endocrine development     Volume:  14     ISSN:  1421-7082     ISO Abbreviation:  Endocr Dev     Publication Date:  2009  
Date Detail:
Created Date:  2009-03-31     Completed Date:  2009-05-11     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101138956     Medline TA:  Endocr Dev     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  38-52     Citation Subset:  IM    
Affiliation:
Bambino Gesu' Children's Research Hospital, Department of Laboratory Medicine, Rome, Italy. ebertini@tin.it
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MeSH Terms
Descriptor/Qualifier:
Humans
Mitochondrial Encephalomyopathies / diagnosis,  genetics*,  physiopathology*
Syndrome

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