title: [Nucleopathies in children].
abstract: Nucleopathies belong to a group of rare diseases, associated with nuclear protein abnormalities. The best characterized are laminopathies, depending on lamin A/C gene mutations and affecting tissues of mesenchymal origin. Among the so-called tissue-specific nucleopathies striated muscles and/or cardiac are the most frequently affected, among multisystemic nucleopathies, premature aging syndromes are particularly significant. Nucleopathies from both groups may be ranked in terms of age of first symptoms and the disease severity. Those which occur earlier, sometimes even in prenatal period, have the most serious, almost always lethal course. The article presents clinical description of nucleopathies in children, their causative mutations and pathophysiology.
authors.affiliation: Zespół Chorób Nerwowo-Mieśniowych, Instytut Medycyny Doświadczalnej i Klinicznej PAN im. M. Mossakowskiego. agamadpil@gmail.com
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Madej-Pilarczyk
mesh_terms: D000293:Adolescent; D019588:Aging, Premature / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D034904:Lamin Type A / Q000235:genetics*; D008060:Lipodystrophy / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics; D011371:Progeria / Q000175:diagnosis / Q000235:genetics
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A