Article
Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.
Acta neurologica Scandinavica. Supplementum - 1 Jan 2009
Tzoulis C, Papingji M, Fiskestrand T, Røste L S, Bindoff L A
Abstract excerpt
OBJECTIVES: To investigate two patients with late onset, progressive external ophthalmoplegia (PEO) and sensory peripheral neuropathy. MATERIALS & METHODS: The patients aged 86 and 50 years were investigated clinically including magnetic resonance imaging of the brain, electrophysiological studies and, in one, skeletal muscle biopsy. Molecular studies included sequencing of the whole coding region of the POLG1...
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