title: EFNS guidelines on the molecular diagnosis of mitochondrial  disorders.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  The proposed guidelines suggest an approach to the molecular diagnosis of MIDs in a manner accessible to general neurologists.
authors: Krankenanstalt Rudolfstiftung, Vienna, Danube University Krems, Krems, Austria. fifigs1@yahoo.de
authors: J
authors: J
authors: Finsterer
authors: H F
authors: HF
authors: Harbo
authors: J
authors: J
authors: Baets
authors: C
authors: C
authors: Van Broeckhoven
authors: S
authors: S
authors: Di Donato
authors: B
authors: B
authors: Fontaine
authors: P
authors: P
authors: De Jonghe
authors: A
authors: A
authors: Lossos
authors: T
authors: T
authors: Lynch
authors: C
authors: C
authors: Mariotti
authors: L
authors: L
authors: Schöls
authors: A
authors: A
authors: Spinazzola
authors: Z
authors: Z
authors: Szolnoki
authors: S J
authors: SJ
authors: Tabrizi
authors: C M E
authors: CM
authors: Tallaksen
authors: M
authors: M
authors: Zeviani
authors: J-M
authors: JM
authors: Burgunder
authors: T
authors: T
authors: Gasser
mesh_terms: D006801:Humans; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000235:genetics*; D008967:Molecular Biology / Q000379:methods*