Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review
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DOI: 10.1002/mdc3.13529
Abstract: Biallelic variants in HPCA were linked to isolated dystonia (formerly DYT2) in 2015. Since then, the clinical spectrum of HPCA‐related disorder has expanded up to including a complex syndrome encompassing neurodevelopmental delay, generalized dystonia with… read more here.
Keywords: dystonia due; onset choreo; childhood onset; dystonia ... See more keywords