title: Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.
abstract: We examined three patients with a severe infantile type of congenital myopathy due to dominant, missense ACTA1 mutations. In addition to muscle weakness, all three patients showed developmental delay in word comprehension during early childhood. All also showed frontal lobe hypoplasia and lateral ventricular dilatation. One patient in addition exhibited features of multiple congenital malformations including skeletal dysplasia, hepatomegaly and urinary tract stenosis. These findings may suggest a link between extramuscular expression of α-skeletal muscle actin and clinical symptoms in non-skeletal muscle tissues of patients with ACTA1 mutations, and probably a functional role of α-skeletal muscle actin during fetal development.
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan. saitoyo@ncnp.go.jp
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Ayako
authors.initials: A
authors.lastname: Hattori
authors.forename: Fumi
authors.initials: F
authors.lastname: Takeuchi
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
authors.forename: Ken
authors.initials: K
authors.lastname: Kawabata
authors.forename: Satomi
authors.initials: S
authors.lastname: Mitsuhashi
authors.forename: Kayo
authors.initials: K
authors.lastname: Tominaga
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Kristen J
authors.initials: KJ
authors.lastname: Nowak
authors.forename: Nigel G
authors.initials: NG
authors.lastname: Laing
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000199:Actins / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D018908:Muscle Weakness / Q000175:diagnosis / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000503:physiopathology; D020125:Mutation, Missense; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype
chemical_list: D000199:Actins