Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations
Sign Up to like & getrecommendations! Published in 2024 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.14124
Abstract: Variants in GNAL have been mostly associated to adult-onset focal dystonia, involving laryngeal and craniocervical regions with superimposed tremor, being inherited in an autosomal dominant manner with reduced penetrance. 1 To date, biallelic variants in… read more here.
Keywords: pediatric onset; cognitive impairment; dystonia cognitive; onset generalized ... See more keywords