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- W2045624532 abstract "Missense mutations in the gene for polymerase γ 1 (POLG1) cause a number of phenotypically heterogeneous mitochondrial diseases, most commonly progressive external ophthalmoplegia, and are characterized by the accumulation of multiple, large-scale deletions of mitochondrial DNA. The triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) has been demonstrated in a small subset of patients with POLG1 mutations. We report a sporadic case of an 80-year-old compound heterozygote man who presented with SANDO and was found to have three known pathogenic mutations in the POLG1 gene (p.T251I/p.P587L/p.G848S). To our knowledge, none of these mutations have been demonstrated previously in SANDO. This patient's late presentation illustrates that a mitochondrial disorder should be considered regardless of age if the clinical symptoms warrant. Muscle Nerve, 2010" @default.
- W2045624532 created "2016-06-24" @default.
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- W2045624532 date "2010-04-28" @default.
- W2045624532 modified "2023-10-14" @default.
- W2045624532 title "Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations" @default.
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- W2045624532 doi "https://doi.org/10.1002/mus.21636" @default.
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