Article
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
Journal of medical genetics - 1 Apr 2023
Shafique Anum, Arif Beenish, Chu Mary Lynn, Moran Ellen, Hussain Tooba, Zamora Francisca Millan, Wohler Elizabeth, Sobreira Nara, Klein Christine, Lohmann Katja, Naz Sadaf
Abstract excerpt
BACKGROUND: Dystonia involves repetitive movements and muscle contractions leading to abnormal postures. We investigated patients in two families, DYAF11 and M, exhibiting dystonic or involuntary movement disorders. METHODS: Clinical investigations were performed for all patients. Genetic analyses included genome-wide linkage analysis and exome sequencing followed by Sanger sequencing validation. MRM2-specific...
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