title: A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.
abstract: We describe a 22-month-old girl with axial muscle and diaphragmatic weakness as well as motor developmental delay without mental retardation. The striking clinical feature was a dropped head, although she could walk unaided. T2/FLAIR brain MRI revealed a focal abnormality with high signal intensity in the white matter including U-fibers. A muscle biopsy showed active necrotic and regenerative processes. These distinct clinical findings prompted a mutational analysis of the lamin A (LMNA) gene, and we identified a novel heterozygous mutation in LMNA (c.1330_1338dup9). This is the first report of an Asian patient with LMNA-related congenital muscular dystrophy (L-CMD) and a dropped head.
authors.affiliation: Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Hattori
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Masao
authors.initials: M
authors.lastname: Kawatani
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: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006257:Head; D006801:Humans; D007223:Infant; D034904:Lamin Type A / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D018908:Muscle Weakness / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation
chemical_list: D034904:Lamin Type A