Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations
Copyright policy )Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations
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.
- Saitama Children's Medical Center Japan
- University of Western Australia Australia
- National Center of Neurology and Psychiatry Japan
- Queen Elizabeth II Medical Centre Australia
- Harry Perkins Institute of Medical Research Australia
Male, Muscle Weakness, Phenotype, Child, Preschool, Intellectual Disability, Mutation, Missense, Humans, Muscle, Skeletal, Actins, Myopathies, Structural, Congenital
Male, Muscle Weakness, Phenotype, Child, Preschool, Intellectual Disability, Mutation, Missense, Humans, Muscle, Skeletal, Actins, Myopathies, Structural, Congenital
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