title: Inflammatory changes in infantile-onset LMNA-associated myopathy.
abstract: Mutations in LMNA cause wide variety of disorders including Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, and congenital muscular dystrophy. We recently found a LMNA mutation in a patient who was previously diagnosed as infantile onset inflammatory myopathy. In this study, we screened for LMNA mutations in 20 patients suspected to have inflammatory myopathy with onset at 2years or younger. The diagnosis of inflammatory myopathy was based on muscle pathology with presence of perivascular cuffing and/or endomysial/perimysial lymphocyte infiltration. We identified heterozygous LMNA mutations in 11 patients (55%), who eventually developed joint contractures and/or cardiac involvement after the infantile period. Our findings suggest that LMNA mutation should be considered in myopathy patients with inflammatory changes during infancy, and that this may help avoid life-threatening events associated with laminopathy.
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Ogawa-Higashi, Kodaira, Tokyo, Japan.
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Rie
authors.initials: R
authors.lastname: Tsuburaya
authors.forename: Kazuma
authors.initials: K
authors.lastname: Sugie
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
authors.forename: George
authors.initials: G
authors.lastname: Imataka
authors.forename: Shuhei
authors.initials: S
authors.lastname: Suzuki
authors.forename: Shinji
authors.initials: S
authors.lastname: Saitoh
authors.forename: Naoko
authors.initials: N
authors.lastname: Asahina
authors.forename: Kazuya
authors.initials: K
authors.lastname: Honke
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Higuchi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Sakuma
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.forename: Eiji
authors.initials: E
authors.lastname: Nakagawa
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007249:Inflammation / Q000473:pathology*; D034904:Lamin Type A / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D009154:Mutation; D009220:Myositis / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D012189:Retrospective Studies; D016896:Treatment Outcome
chemical_list: D000305:Adrenal Cortex Hormones; C494847:LMNA protein, human; D034904:Lamin Type A