Expanding the genotype-phenotype spectrum of ISCA2 -related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival

This report expands the clinical spectrum ofISCA2-related disorders to include a milder phenotype with a longer life span and better psychomotor function and cavitating leukodystrophy on MRI. We discuss the possible genetic explanation for the different presentation.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research