POLG1/ANT1-Related SANDO is a Multisystem Mitochondrial Disorder
Author(s) -
Josef Finsterer,
Sinda ZarroukMahjoub
Publication year - 2018
Publication title -
journal of medical imaging and case reports
Language(s) - English
Resource type - Journals
ISSN - 2578-2045
DOI - 10.17756/micr.2018-011
Subject(s) - mitochondrial disease , biology , mitochondrial dna , medicine , genetics , gene
Published by United Scientific Group 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 [1]. SANDO, first described by Fadic et al. in 1997 [2], is clinically characterized by the triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [3]. We have the following comments and concerns.
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