Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy

Neuropathology, 05/17/2012

Neurons may be the primary target of mitochondrial dysfunction in brains of patients with Alpers disease related to polymerase gamma 1 (POLG1) mutations. During early disease stages, brain histopathology may be misleading, showing reactive inflammatory changes.

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