EFNS guidelines on the molecular diagnosis of mitochondrial disorders.
Eur J Neurol
; 16(12): 1255-64, 2009 Dec.
Article
in En
| MEDLINE
| ID: mdl-19950421
ABSTRACT
OBJECTIVES:
These European Federation of Neurological Sciences (EFNS) guidelines are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics for diagnosing mitochondrial disorders (MIDs), which gain increasing attention and are more frequently diagnosed due to improved diagnostic tools.BACKGROUND:
Since the publication of the first EFNS guidelines on the molecular diagnosis of inherited neurological diseases in 2001, rapid progress has been made in this field, necessitating the creation of an updated version. SEARCH STRATEGY To collect data about the molecular diagnosis of MIDs search for literature in various electronic databases, such as Cochrane library, MEDLINE, OMIM, GENETEST or Embase, were carried out and original papers, meta-analyses, review papers, and guideline recommendations were reviewed.RESULTS:
The guidelines summarise the possibilities and limitations of molecular genetic diagnosis of MIDs and provide practical recommendations and diagnostic criteria in accordance with the EFNS Scientific Committee to guide the molecular diagnostic work-up of MIDs.RECOMMENDATIONS:
The proposed guidelines suggest an approach to the molecular diagnosis of MIDs in a manner accessible to general neurologists.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Mitochondrial Diseases
/
Molecular Biology
Type of study:
Diagnostic_studies
/
Guideline
/
Systematic_reviews
Limits:
Humans
Language:
En
Journal:
Eur J Neurol
Journal subject:
NEUROLOGIA
Year:
2009
Type:
Article
Affiliation country:
Austria