Skip to main content
Fig. 1 | Acta Neuropathologica Communications

Fig. 1

From: Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

Fig. 1

Overview of the ACTA1 mutations. A Schematic representation of the seven ACTA1 exons and position of the mutations in the ten novel patients (bold) and in the previously reported cases (light). B Resolved 3D protein structure of an αskm-actin monomer with position of the missense mutations highlighted in red

Back to article page