title: Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.
abstract: Mutations in the lamin A/C gene (LMNA) have been associated with neuromuscular diseases and more complex syndromes, involving bone and adipose tissue. We report on a case of early onset myopathy due to a heterozygous LMNA mutation in exon 9, characterized by the presence of a marked number of cytoplasmic bodies with extensive myofibrillar abnormalities and Z-disk disruption in skeletal muscle. This case suggests there is a need to increase the list of genes to be screened in patients with myofibrillar myopathy.
authors.affiliation: Unit of Molecular Medicine and Pathology, Department of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: D'Amico
authors.forename: S
authors.initials: S
authors.lastname: Benedetti
authors.forename: S
authors.initials: S
authors.lastname: Petrini
authors.forename: N
authors.initials: N
authors.lastname: Sambuughin
authors.forename: R
authors.initials: R
authors.lastname: Boldrini
authors.forename: I
authors.initials: I
authors.lastname: Menditto
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
authors.forename: M
authors.initials: M
authors.lastname: Verardo
authors.forename: L
authors.initials: L
authors.lastname: Goldfarb
authors.forename: E
authors.initials: E
authors.lastname: Bertini
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D003893:Desmin / Q000378:metabolism; D003576:Electron Transport Complex IV / Q000378:metabolism; D005091:Exons; D005260:Female; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D034904:Lamin Type A / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense / Q000235:genetics*; D009210:Myofibrils / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure
chemical_list: D003893:Desmin; C494847:LMNA protein, human; D034904:Lamin Type A; D003576:Electron Transport Complex IV