3. Discussion Most of the mutations previously described as pathogenic or probably pathogenic Figurien1t.h(eAC)ASaSnZg1egresneeqaureenacsesvocailaidteadtiwonitohfnperuorboadnedvealnodpmpaenretanltsd;i(sBor)dsetrrus catnudreaoref tmhiessCeAnsSeZ1 prote (isofovramrisanCtAs.SZM1oas, tCoAfStZhe1mb...