Autosomal recessive mutations in the TRIP4 gene, encoding the transcriptional co-activator ASC-1 (Activating Signal Cointegrator 1) cause a recently described congenital myopathy termed ASC1-related myopathy (ASC1-RM). Prevalence cannot be estimated at this point as only 9 families with TRIP4 mutations have been reported so far. The main clinical features are listed on the Professionals – Clinical characteristics section.
TRIP4