Multiple mtDNA deletions: Clinical and molecular correlations

F. M. Santorelli, G. De Joanna, C. Casali, A. Tessa, G. Siciliano, G. A. Amabile, F. Pierelli, L. Vilarinho, L. Santoro

Research output: Contribution to journalArticle


We studied six Italian patients harbouring multiple mitochondrial DNA (mtDNA) deletions in order to correlate clinical and molecular features. Earlier age at onset (17 vs 36 years), fewer ragged-red fibres (none vs 35%), and lower proportions of deleted mtDNAs (9 vs 33%) were found in one patient with autosomal recessive inheritance as compared to five with dominant transmission. Our findings add to the features associated with multiple deletions of mtDNA.

Original languageEnglish
Pages (from-to)155-161
Number of pages7
JournalJournal of Inherited Metabolic Disease
Issue number2
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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    Santorelli, F. M., De Joanna, G., Casali, C., Tessa, A., Siciliano, G., Amabile, G. A., Pierelli, F., Vilarinho, L., & Santoro, L. (2000). Multiple mtDNA deletions: Clinical and molecular correlations. Journal of Inherited Metabolic Disease, 23(2), 155-161.