Novel KMT2B Mutation Linked to Atypical Dystonia
Researchers have identified a novel KMT2B gene mutation in a 13-year-old girl with an unusual form of dystonia, expanding the known clinical spectrum of this childhood-onset movement disorder. Bioinformatic analysis revealed that this mutation leads to decreased stability in the KMT2B protein structure. This finding underscores the critical link between protein structure, function, and disease manifestation.