title: Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy.
abstract: Despite numerous reports about dystrophin alterations in Duchenne and Becker muscular dystrophies and dilated cardiomyopathy, the function of dystrophin gene promoters has not yet been completely elucidated. We report the first case of a DNA segment deletion encompassing promoters M and P of the human dystrophin gene, which caused a very severe muscle phenotype without cardiomyopathy, in a 13-year-old boy. These data indicate that the simultaneous lack of promoters P and M results in dramatic consequences in skeletal muscle but not in the heart.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche and CEINGE-Biotecnologie Avanzate, Facoltà di Medicina e Chirugia, Università degli Studi di Napoli 'Federico II', Naples, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Frisso
authors.forename: Simone
authors.initials: S
authors.lastname: Sampaolo
authors.forename: Lucio
authors.initials: L
authors.lastname: Pastore
authors.forename: Angelo
authors.initials: A
authors.lastname: Carlomagno
authors.forename: Rosa Maria
authors.initials: RM
authors.lastname: Calise
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Di Iorio
authors.forename: Francesco
authors.initials: F
authors.lastname: Salvatore
mesh_terms: D000293:Adolescent; D015153:Blotting, Western; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D017353:Gene Deletion; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012016:Reference Values; D013848:Thigh
chemical_list: D016189:Dystrophin