Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation

Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation

“…It is important to recognize that the proband (sibling number 1) went many years without a molecular diagnosis. We would like to eliminate any confusion in the time course of their workup and treatment [2] . The goal of the table seen below is to crystallize the various events in time.…”