Actin Nemaline Myopathy Mouse Reproduces Disease, Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression

Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies

(2011) Gianina Ravenscroft et al.   BRAIN

Differentiation and fiber type-specific activity of a muscle creatine kinase intronic enhancer

(2011) Phillip WL Tai et al.   Skeletal Muscle

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

(2010) Nyamkhishig Sambuughin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

(2010) Gianina Ravenscroft et al.   NEUROMUSCULAR DISORDERS

α-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells

(2009) Drieke Vandamme et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1)

(2009) Nigel G. Laing et al.   HUMAN MUTATION

Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin

(2009) Kristen J. Nowak et al.   JOURNAL OF CELL BIOLOGY

Direct visualisation and kinetic analysis of normal and nemaline myopathy actin polymerisation using total internal reflection microscopy

(2009) Juan-Juan Feng et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Novel RYR1 missense mutation causes core rod myopathy

(2008) M. von der Hagen et al.   EUROPEAN JOURNAL OF NEUROLOGY

Molecular and cellular adaptations to chronic myotendinous strain injury in mdx mice expressing a truncated dystrophin

(2008) Glen B. Banks et al.   HUMAN MOLECULAR GENETICS