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Results 1 - 4 of 4 for Mitochondrial DNA deletion syndrome with progressive myopathy
  1. Mitochondrial DNA 
    ... childhood develop signs and symptoms of Kearns-Sayre syndrome later in life. More About This Health Condition Mitochondrial DNA deletion or mutation can be involved in an eye condition called progressive external ophthalmoplegia. This disorder weakens the muscles that ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  2. Kearns-Sayre syndrome 
    ... PubMed Goldstein A, Falk MJ. Single Large-Scale Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [updated 2023 Sep 28]. In: ... analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet. 2008;53(7):598. doi: 10.1007/s10038-008-0289-8. Epub 2008 Apr 15. Citation on PubMed
    https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome - Genetics
  3. Progressive external ophthalmoplegia 
    ... progressive external ophthalmoplegia CPEO PEO Genetic Testing Registry: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Genetic Testing Registry: Progressive external ...
    https://medlineplus.gov/.../progressive-external-ophthalmoplegia - Genetics
  4. POLG gene 
    ... Van Goethem G, Martin JJ, Van Broeckhoven C. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability ...
    https://medlineplus.gov/genetics/gene/polg - Genetics