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.
MONDO:0018158
mitochondrial DNA depletion syndrome
excluded_subClassOf
MONDO:0000090
progressive external ophthalmoplegia with mitochondrial DNA deletions
is_a
PEOB4
exact
adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
exact
adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
exact
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
exact
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4
exact