Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy

Abstract excerpt

Visceral myopathy is a life-threatening disease characterized by muscle weakness in the bowel, bladder, and uterus. Mutations in smooth muscle γ-actin (ACTG2) are the most common cause of the disease, but the mechanisms by which the mutations alter muscle function are unknown. Here, we examined four prevalent ACTG2 mutations (R40C, R148C, R178C, and R257C) that cause different disease severity and are spread...

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• Cardiomyopathy and Myosin Studies
• Genetic Neurodegenerative Diseases
• Muscle Physiology and Disorders