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  1. A New Phenotype for a Known Neurological Disorder

A New Phenotype for a Known Neurological Disorder

Katja Kloth et al.
June 23, 2020

Dystonia as Initial Presentation of Compound Heterozygous GBA2 Mutations: Expanding the Phenotypic Spectrum of SPG46

Hereditary disorders of the nervous system may present with a wide spectrum of symptoms. Bi-allelic mutations in GBA2, classically associated with abnormal gait, have recently been found to also cause dystonia. This novel observation, to which CENTOGENE contributed the genetic data, was published in the European Journal of Medical Genetics.