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A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss.




Mitochondrial recessive ataxia syndrome
Mitochondrial spinocerebellar ataxia-epilepsy syndrome
Sensory ataxic neuropathy with mitochondrial DNA deletions autosomal recessive
Spinocerebellar ataxia with epilepsy


Primary mitochondrial disease


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