Expanding the ADCY5 phenotype toward spastic paraparesis
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DOI: 10.1212/nxg.0000000000000214
Abstract: Patients with an ADCY5 gene mutation reveal a heterogenous clinical presentation including axial hypotonia, motor milestone delay, fluctuating dyskinesias, dystonia, and/or myoclonus with episodic exacerbations during drowsiness and sleep.1,2 Phenotype-genotype correlations and somatic mosaicism are… read more here.
Keywords: neurology; phenotype toward; expanding adcy5; spastic paraparesis ... See more keywords