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

Conclusions Our results expand the clinical and allelic spectrum of MRM2 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 MRM2 transcripts, raising the possibility to develop treatment by understanding the disease mechanism.

http://jmg.bmj.com/cgi/content/short/60/4/352?rss=1

Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Shafique, A., Arif, B., Chu, M. L., Moran, E., Hussain, T., Zamora, F. M., Wohler, E., Sobreira, N., Klein, C., Lohmann, K., Naz, S. Tags: Neurogenetics Source Type: research