title: A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.
authors.affiliation: Department of Cardiology, La Timone Hospital, Aix-Marseille Université, Marseille, France. Electronic address: pierre.ambrosi@ap-hm.fr.
authors.forename: Pierre
authors.initials: P
authors.lastname: Ambrosi
authors.affiliation: Department of Cardiac Surgery, La Timone Hospital, Aix-Marseille Université, Marseille, France.
authors.forename: Bernard
authors.initials: B
authors.lastname: Kreitmann
authors.affiliation: Department of Pathology, La Timone Hospital, Aix-Marseille Université, Marseille, France.
authors.forename: Hubert
authors.initials: H
authors.lastname: Lepidi
authors.affiliation: Department of Cardiology, La Timone Hospital, Aix-Marseille Université, Marseille, France.
authors.forename: Gilbert
authors.initials: G
authors.lastname: Habib
authors.affiliation: Department of Medical Genetics, La Timone Hospital, Aix Marseille Université, INSERM, GMGF UMR S 910, 13385 Marseille, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Levy
authors.affiliation: Department of Medical Genetics, La Timone Hospital, Aix Marseille Université, INSERM, GMGF UMR S 910, 13385 Marseille, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
authors.affiliation: Department of Medical Genetics, La Timone Hospital, Aix Marseille Université, INSERM, GMGF UMR S 910, 13385 Marseille, France.
authors.forename: Annachiara
authors.initials: A
authors.lastname: De Sandre-Giovannoli
mesh_terms: D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008060:Lipodystrophy / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008336:Mandibular Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D034904:Lamin Type A
keywords: Cardiomyopathy; Genetic testing; Laminopathy; Transplantation