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Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.

Claudia Rodríguez-LópezLuis M García-CárdabaAlberto BlázquezPablo Serrano-LorenzoGerardo Gutiérrez-GutiérrezBeatriz San Millán-TejadoNuria MuelasAurelio Hernández-LaínJuan J VílchezEduardo Gutiérrez-RivasJoaquín ArenasMiguel Angel MartinCristina Domínguez-González
Published in: Journal of medical genetics (2020)
Phenotype-genotype correlations cannot be brought in mitochondrial PEO. Muscle biopsy should be the first step in the diagnostic flow of PEO when mitochondrial aetiology is suspected since it also enables the study of mtDNA rearrangements. If no mtDNA deletions are identified, whole mtDNA sequencing should be performed.
Keyphrases
  • copy number
  • mitochondrial dna
  • oxidative stress
  • multiple sclerosis
  • genome wide
  • skeletal muscle
  • pulmonary embolism
  • single cell
  • gene expression
  • dna methylation