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Recessive Epidemiology: 19 families Genetics Mutations Missense & Stop 50% at GLN85: Gln85Pro PTRH2 protein Mitochondria: Outer membrane Integrin-mediated cell survival Apoptosis signaling Interaction with focal adhesion kinase (FAK) PI3K-AKT-NFkB pathway Induces Bcl-2 transcription Apoptosis Blocks: Intrinsic mitochondrial apoptotic pathway Promotes: Caspase-independent apoptosis by regulating transcriptional regulators, AES & TLE1 Regulates extracellular signal-regulated kinase (ERK) signaling Prevents accumulation of dissociated peptidyl-tRNA: Could inhibit protein synthesis Controls skeletal myogenesis: Caspase-mediated signaling pathway