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Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6

MedGen UID:
1050826
Concept ID:
CN375864
Disease or Syndrome
Synonym: progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
 
Gene (location): RRM1 (11p15.4)
 
Monarch Initiative: MONDO:0957993
OMIM®: 620647

Definition

Autosomal recessive progressive external ophthalmoplegia-6 (PEOB6) is characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle (Shintaku et al., 2022). For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450). [from OMIM]

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