Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.
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mitochondrial respiratory chain complex deficiency
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combined oxidative phosphorylation deficiency
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optic atrophy with demyelinating disease of CNS
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optic atrophy 3
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autosomal dominant optic atrophy, classic form
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