title: Unique PABPN1 gene mutation in a large Bulgarian family with OPMD.
authors.forename: V
authors.initials: V
authors.lastname: Mihaylova
authors.forename: T
authors.initials: T
authors.lastname: Müller
authors.forename: I
authors.initials: I
authors.lastname: Petrova
authors.forename: I
authors.initials: I
authors.lastname: Tournev
authors.forename: S
authors.initials: S
authors.lastname: Cherninkova
authors.forename: M C
authors.initials: MC
authors.lastname: Walter
authors.forename: M
authors.initials: M
authors.lastname: Deschauer
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002031:Bulgaria; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D039141:Muscular Dystrophy, Oculopharyngeal / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D018384:Oxidative Stress / Q000235:genetics; D010375:Pedigree; D039103:Poly(A)-Binding Protein II / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D039103:Poly(A)-Binding Protein II