MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1

Journal of Neurology

Volumn 260, Issue 4, 2013, Pages 998-1003

  Huin, Vincent ^a   Vasseur, Francis ^a   Schraen Maschke, Susanna ^a   Dhaenens, Claire Marie ^a   Devos, Patrick ^a   Dupont, Kathy ^a   Sergeant, Nicolas ^a   Buée, Luc ^a   Lacour, Arnaud ^a   Hofmann Radvanyi, Hélène ^b   Sablonnière, Bernard ^a  

^a UNIV LILLE   (France)

^b LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

Disease severity; MBNL1 gene variants; Myotonic dystrophy

Indexed keywords

GENOMIC DNA; MYOTONIC DYSTROPHY PROTEIN KINASE;

ADULT; ARTICLE; CASE CONTROL STUDY; DISEASE SEVERITY; EXON; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MUSCLEBLIND LIKE PROTEIN 1 GENE; MYOTONIC DYSTROPHY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM;

ADULT; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MYOTONIC DYSTROPHY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; REGRESSION ANALYSIS; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION; YOUNG ADULT;

EID: 84876476655     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6740-y     Document Type: Article

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