title: Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype.
abstract: In Duchenne muscular dystrophy, the progression of the disease is always severe and predictable, while in Becker dystrophy there is a wide variability (intra and inter familial) in the severity of the phenotype. We report here a family in which the proband, who is currently 15 years old, is showing a severe DMD progression, while his affected maternal uncle, aged 29, has a more benign course, compatible with BMD. No DNA deletion was detected in both patients. Dystrophin analysis through immunofluorescence and western blotting showed a negative pattern in the youngest patient and a positive one in the oldest. Apparently, this is the first report on intrafamilial variability in dystrophin abundance correlated with a difference in the severity of the phenotype.
authors.affiliation: Departamento de Biologia, Universidade de Sao Paulo, Brazil.
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: R I
authors.initials: RI
authors.lastname: Takata
authors.forename: R de C
authors.initials: Rde C
authors.lastname: Pavanello
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D000293:Adolescent; D000328:Adult; D015153:Blotting, Western; D003402:Creatine Kinase / Q000378:metabolism; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000378:metabolism; D004247:DNA / Q000032:analysis; D016189:Dystrophin / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D005190:Family; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins; D009132:Muscles / Q000737:chemistry / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D049411:Utrophin
chemical_list: D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008565:Membrane Proteins; D049411:Utrophin; D004247:DNA; D003402:Creatine Kinase