Defining Characteristics
Maternal transmission, extra-muscular manifestations (in tissues/organs w/ high met rates)
Furrowed brow, high-arched eyebrows
Progressive External Opthalmoplegia (PEO) – ptosis,
opthalmoparesis
MELAS – stroke <40, encephalopathy, RRF, lactic acidosis MERRF- myoclonus, epilepsy, ataxia, ragged red fibers
Disease Development
Abnormal amounts of mitochondria
Lab/Imaging
Histology? Ragged red fibers representing abnl excess mitochondria