|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
12
|
|
pubmed:dateCreated |
2009-12-16
|
|
pubmed:abstractText |
Mutations in the gene encoding mitofusin 2 (MFN2) cause Charcot-Marie-Tooth disease type 2 (CMT2), with heterogeneity concerning severity and associated clinical features.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Dec
|
|
pubmed:issn |
1538-3687
|
|
pubmed:author |
pubmed-author:Arne-BesMarie-ChristineMC,
pubmed-author:BouchePierreP,
pubmed-author:CalvoJudithJ,
pubmed-author:CarrièreJean-PierreJP,
pubmed-author:De MasPhilippeP,
pubmed-author:FunalotBenoîtB,
pubmed-author:GhorabKarimaK,
pubmed-author:Gilbert-DussardierBrigitteB,
pubmed-author:GuillouClaireC,
pubmed-author:JournelHubertH,
pubmed-author:LazaroLeilaL,
pubmed-author:MagdelaineCorinneC,
pubmed-author:MagyLaurentL,
pubmed-author:Minot-MyhieMarie-ChristineMC,
pubmed-author:OuvrierRobert ARA,
pubmed-author:SturtzFranckF,
pubmed-author:ToutainAnnickA,
pubmed-author:VallatJean-MichelJM
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
66
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1511-6
|
|
pubmed:meshHeading |
pubmed-meshheading:20008656-Adolescent,
pubmed-meshheading:20008656-Adult,
pubmed-meshheading:20008656-Aged,
pubmed-meshheading:20008656-Charcot-Marie-Tooth Disease,
pubmed-meshheading:20008656-Child,
pubmed-meshheading:20008656-Child, Preschool,
pubmed-meshheading:20008656-Female,
pubmed-meshheading:20008656-Genes, Dominant,
pubmed-meshheading:20008656-Genes, Recessive,
pubmed-meshheading:20008656-Genetic Markers,
pubmed-meshheading:20008656-Genotype,
pubmed-meshheading:20008656-Humans,
pubmed-meshheading:20008656-Male,
pubmed-meshheading:20008656-Membrane Proteins,
pubmed-meshheading:20008656-Middle Aged,
pubmed-meshheading:20008656-Mitochondrial Proteins,
pubmed-meshheading:20008656-Mutation, Missense,
pubmed-meshheading:20008656-Phenotype,
pubmed-meshheading:20008656-Severity of Illness Index,
pubmed-meshheading:20008656-Young Adult
|
|
pubmed:year |
2009
|
|
pubmed:articleTitle |
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
|
|
pubmed:affiliation |
Service de neurologie, Centre Hospitalier Universitaire (CHU) de Limoges, Limoges, France.
|
|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|
