Article
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.
Neuromuscular disorders : NMD - 1 Aug 2008
Milone Margherita, Brunetti-Pierri Nicola, Tang Lin-Ya, Kumar Neeraj, Mezei Michelle M, Josephs Keith, Powell Suzanne, Simpson Ericka, Wong Lee-Jun C
Abstract excerpt
Mutations in POLG gene are responsible for a wide spectrum of clinical disorders with altered mitochondrial DNA (mtDNA) integrity, including mtDNA multiple deletions and depletion. Sensory ataxic neuropathy with ophthalmoparesis (SANDO) caused by mutations in POLG gene, fulfilling the clinical triad of sensory ataxic neuropathy, dysarthria and/or dysphagia and ophthalmoparesis, has described in a few reports....
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