C19orf12 mutation carriers and their first-degree relatives require prospective clinical and genetic work-up

With interest we read the article by Sparber et al. about 17 Russian patients with mitochondrial membrane protein-associated neurodegeneration (MPAN) due to variants in C19orf12 [1]. It was concluded that the stady expands the genotypic and phenotypic spectrum of MPAN [1]. We have the following comments and concerns.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research