MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.

Our results expand the clinical and allelic spectrum of variants. Previously, these descriptions were based on observations in a single patient, diagnosed with mitochondrial DNA depletion syndrome 17, in whom movement disorder was accompanied by recurrent strokes and epilepsy. We also demonstrate a subset of correctly spliced tt-ag transcripts, raising the possibility to develop treatment by understanding the disease mechanism.