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Mitochondrial Inheritance Disorders - Coggle Diagram
Mitochondrial Inheritance Disorders
what is it?
failure to meet energy requirements through oxidative phosphorylation
maternal inheritance
variable expressivity due to heteroplasty
mitochondrial myopathies
features:
lactic acidosis
myopathy
CNS dysfunction
histology
ragged red fibers on Gomori Trichrome stain due to build up of pathologic mitochondria in muscle fiber
MELAS syndrome
mitochondrial encephalopathy
lactic acidosis
recurrent stroke like episodes
Leber Hereditary Optic Neuropathy (LHON)
most common mitochondrial disease
features
bilateral vision loss
.
degeneration of retinal ganglion cells and associated axons
permanent blindness