title: Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
authors.affiliation: Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK.
authors.forename: R K
authors.initials: RK
authors.lastname: Jain
authors.forename: S
authors.initials: S
authors.lastname: Jayawant
authors.forename: W
authors.initials: W
authors.lastname: Squier
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: C A
authors.initials: CA
authors.lastname: Sewry
authors.forename: A
authors.initials: A
authors.lastname: Manzur
authors.forename: R
authors.initials: R
authors.lastname: Quinlivan
authors.forename: S
authors.initials: S
authors.lastname: Lillis
authors.forename: H
authors.initials: H
authors.lastname: Jungbluth
authors.forename: J C
authors.initials: JC
authors.lastname: Sparrow
authors.forename: G
authors.initials: G
authors.lastname: Ravenscroft
authors.forename: K J
authors.initials: KJ
authors.lastname: Nowak
authors.forename: M
authors.initials: M
authors.lastname: Memo
authors.forename: S B
authors.initials: SB
authors.lastname: Marston
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
mesh_terms: D000199:Actins / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D009122:Muscle Hypertonia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D017696:Myopathies, Nemaline / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D000199:Actins