title: Muscular dystrophy, mental retardation and cardiomyopathy not associated with dystrophin deficiency.
abstract: We report on a male patient aged 38, affected by a syndrome whose characteristic features include onset in early childhood, slow progression, diffuse muscle weakness, mental retardation and cardiomyopathy. Muscle biopsy showed myopathic changes compatible with muscular dystrophy. However, immunostaining for dystrophin as well as 50 and 43 kDa dystrophin-associated glycoproteins (DAGs) was normal. Genetic analysis suggested that direct involvement of the dystrophin gene was highly unlikely. No other family members were affected. Although the clinical picture is reminiscent of Duchenne/Becker muscular dystrophy, the immunologically and genetically documented lack of dystrophin involvement suggests that this particular syndrome is as yet undescribed.
authors.affiliation: Laboratory of Neuropathology, University of Siena, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: R
authors.initials: R
authors.lastname: Biancotti
authors.forename: A
authors.initials: A
authors.lastname: Löfgren
authors.forename: T
authors.initials: T
authors.lastname: Mongini
authors.forename: J
authors.initials: J
authors.lastname: Six
authors.forename: R
authors.initials: R
authors.lastname: Salvestroni
authors.forename: E
authors.initials: E
authors.lastname: Parrotta
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: C
authors.initials: C
authors.lastname: Paolozzi
authors.forename: G
authors.initials: G
authors.lastname: Guazzi
mesh_terms: D000328:Adult; D001706:Biopsy; D009202:Cardiomyopathies / Q000235:genetics / Q000503:physiopathology*; D015342:DNA Probes; D016189:Dystrophin / Q000032:analysis / Q000172:deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D006984:Hypertrophy; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes; D016189:Dystrophin