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Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.

T. Young,E. Blakely,6 Authors,R. D. de Silva

2010 · DOI: 10.1001/archneurol.2010.283
Archives of Neurology · 16 Citations

TLDR

Histopathological findings indicated that an underlying mitochondrial abnormality was responsible for the subject's progressive neurological disorder, with mitochondrial genome sequencing revealing a novel m.586G>A MTTF mutation.