title: Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.
abstract: We present a 6-year-old girl with premature aging associated with mild myopathy, displaying muscle weakness, joint contractures and hyporeflexia. Genetic analysis revealed rare heterozygous point mutation in lamin A/C gene, g.428C>T. Cardiological evaluation showed atrial fibrillation, but we did not find signs of coronary heart disease, which is life-threatening cardiovascular complication in progeria. Electron microscopy of the muscle revealed abnormalities in nuclear architecture, i.e. blebbing, thick lamina and peripheral distribution of heterochromatin. As some diagnostic criteria characteristic for classic progeria are not fulfilled, this case could be regarded as atypical progeria associated with myopathy and atrial fibrillation. To our knowledge, this is the second case of such association described in the literature.
authors.affiliation: Neuromuscular Unit, Medical Research Center, Polish Academy of Sciences, Pawinskiego 5, Warsaw, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Madej-Pilarczyk
authors.forename: Tomasz
authors.initials: T
authors.lastname: Kmieć
authors.forename: Anna
authors.initials: A
authors.lastname: Fidziańska
authors.forename: Joanna
authors.initials: J
authors.lastname: Rekawek
authors.forename: Irena
authors.initials: I
authors.lastname: Niebrój-Dobosz
authors.forename: Anna
authors.initials: A
authors.lastname: Turska-Kmieć
authors.forename: Klaudia
authors.initials: K
authors.lastname: Nestorowicz
authors.forename: Sergiusz
authors.initials: S
authors.lastname: Jóźwiak
authors.forename: Irena
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
mesh_terms: D001281:Atrial Fibrillation / Q000235:genetics* / Q000503:physiopathology; D009202:Cardiomyopathies / Q000235:genetics* / Q000503:physiopathology; D002467:Cell Nucleus / Q000473:pathology; D002648:Child; D015897:Comorbidity; D003286:Contracture / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007592:Joint Diseases / Q000235:genetics / Q000503:physiopathology; D034904:Lamin Type A / Q000235:genetics*; D009206:Myocardium / Q000473:pathology; D017354:Point Mutation / Q000235:genetics; D011371:Progeria / Q000235:genetics* / Q000503:physiopathology; D012021:Reflex, Abnormal / Q000235:genetics
chemical_list: D005819:Genetic Markers; D034904:Lamin Type A