Functional analysis of the common p.G12A exon-2 mutation and the rare exon-4 mutations p.A146T and p.A146V, however, underscored their capacity to activate and/or sustain oncogenic Ras/MAPK and AKT signaling in MM cells, confirming the importance of a mutation-driven activation of MEK-/ERK-signaling in this disease [47]. The gene discussed is MAP2K7; the disease is Miyoshi myopathy.