Patients with mutations in the polymerase gamma gene (POLG) may present with progressive ataxia and in such situations neuroimaging findings may suggest the diagnosis. Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978342 | PMC |
| http://dx.doi.org/10.1177/1971400915621324 | DOI Listing |
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