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Up to: Progressive external ophthalmoplegia with mitochondrial DNA deletions
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.
This condition has no sub-types.