ASC-1 related myopathy is due to recessive mutations in the TRIP4 gene. So far, ten different mutations in the TRIP4 gene have been identified in ASC-1 related myopathy patients. Mutations were distributed along the entire length of the gene. Some of them were shown to achieve the total absence of protein while others induced a significant decrease in the amount of ASC-1 protein or a truncated isoform.
The pathophysiological mechanism involves transcriptional and post-transcriptional regulation defects, that mainly affects two stages of the skeletal muscle development. In few cases, a different neuromuscular phenotype with motor neuron involvement was reported.
TRIP4