title: Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
abstract: Dropped head syndrome is characterized by severe weakness of neck extensor muscles with sparing of the flexors. It is a prominent sign in several neuromuscular conditions, but it may also be an isolated feature with uncertain aetiology. We report two children in whom prominent weakness of neck extensor muscles is associated with mutations in lamin A/C (LMNA) and selenoprotein N1 (SEPN1) genes, respectively. This report expands the underlying causes of the dropped head syndrome which may be the presenting feature of a congenital muscular dystrophy.
authors.affiliation: Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: D'Amico
authors.forename: G
authors.initials: G
authors.lastname: Haliloglu
authors.forename: P
authors.initials: P
authors.lastname: Richard
authors.forename: B
authors.initials: B
authors.lastname: Talim
authors.forename: S
authors.initials: S
authors.lastname: Maugenre
authors.forename: A
authors.initials: A
authors.lastname: Ferreiro
authors.forename: P
authors.initials: P
authors.lastname: Guicheney
authors.forename: I
authors.initials: I
authors.lastname: Menditto
authors.forename: S
authors.initials: S
authors.lastname: Benedetti
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: G
authors.initials: G
authors.lastname: Bonne
authors.forename: H
authors.initials: H
authors.lastname: Topaloglu
mesh_terms: D001120:Arginine / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005998:Glycine / Q000235:genetics; D006801:Humans; D007223:Infant; D034904:Lamin Type A; D034882:Lamins / Q000235:genetics*; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D018908:Muscle Weakness / Q000235:genetics / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation; D009334:Neck Muscles / Q000473:pathology / Q000503:physiopathology; D051140:Selenoproteins; D013577:Syndrome
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A; D034882:Lamins; D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins; D001120:Arginine; D005998:Glycine