progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

Rare Disease

MONDO:0014899

Also known as:

PEOB4adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyadult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency

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 ...

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