Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is a rare phenotype resulting from pathogenic variants of mitochondrial DNA polymerase gamma (POLG). We modeled a novel POLG ...
Dysarthria is a collective term for a group of speech disorders that occur as a result of muscle weakness. People with dysarthria have neurological damage that weakens the muscles necessary for speech ...
The proband (case 1) was a 74-year-old man with hypertension. His parents were reported not to be consanguineous. His mother and father died at age 42 and 80, respectively, and they were free of ...
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