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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… Click to show full 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 suggested to explain the wide phenotypic spectrum.1
Keywords:
neurology;
phenotype toward;
expanding adcy5;
spastic paraparesis;
toward spastic;
adcy5 phenotype
Journal Title: Neurology: Genetics
Year Published: 2018
Link to full text (if available)
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Journal Title: Neurology: Genetics
Year Published: 2018
Link to full text (if available)
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recommendations!