In our cohort, FAP NM tissues, carrying a mutation in one copy of the APC gene, differed from healthy FIT + NM by enhanced Wnt/β-catenin and PI3K/mTOR activation, and are characterized by a higher expression of AXIN2, CCND1, LGR5 Wnt target genes and the mTOR downstream effector protein p-S6R, as previously reported in different models such as the ApcΔ716 heterozygous mutant mouse [24]. Here, PIK3CG is linked to nemaline myopathy.