A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
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mitochondrial respiratory chain complex deficiency
MONDO:0000066
giant axonal neuropathy
MONDO:0000128
combined oxidative phosphorylation deficiency
MONDO:0000732
myopathy, lactic acidosis, and sideroblastic anemia
MONDO:0000863
Finnish type amyloidosis
MONDO:0007097
familial amyloid neuropathy
MONDO:0007100