In a recent article Kirschenbaum et al., described a 50 years female with sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) syndrome due to the mutation c.467A>T in the POLG1 gene. SANDO, first described by Fadic et al. in 1997, is clinically characterized by the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.
Published on: June 11, 2018
Citation: Finsterer J, Zarrouk-Mahjoub S. 2018. POLG1/ANT1-Related SANDO is a Multisystem Mitochondrial Disorder. J Med Imaging Case Rep 2(1): 16-17.