Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy

Journal of Neurology

Volumn 259, Issue 8, 2012, Pages 1546-1552

  Tondo, Mireia ^a   Gámez, Josep ^b   Gutiérrez Rivas, Eduardo ^c   Medel Jiménez, Ramón ^b   Martorell, Loreto ^a  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

CPKs levels; Oculopharyngeal muscular dystrophy; PABPN1 gene; Polymorphism frequency; Triplet expansion disease

Indexed keywords

BINDING PROTEIN; CREATINE KINASE; POLYADENINE BINDING PROTEIN NUCLEAR 1; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CORRELATION ANALYSIS; CREATINE KINASE BLOOD LEVEL; DISEASE SEVERITY; DNA POLYMORPHISM; DYSPHAGIA; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MALE; MUSCLE WEAKNESS; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; ONSET AGE; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; SEX; SPAIN; SPEECH DISORDER; SYMPTOM;

AGED; AGED, 80 AND OVER; ALLELES; COHORT STUDIES; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUSCULAR DYSTROPHY, OCULOPHARYNGEAL; PHENOTYPE; POLY(A)-BINDING PROTEIN I; SPAIN; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84867334797     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6374-5     Document Type: Article

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