Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

  title={Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders},
  author={Sylvie Bannwarth and Vincent Procaccio and Anne Sophie Lebre and Claude Jardel and Annabelle Chaussenot and Claire Hoarau and Hassani Maoulida and N Pierre Charrier and Xiaowu Gai and Hongbo M. Xie and Marc Ferr{\'e} and Konstantina Fragaki and Ga{\"e}lle Hardy and B{\'e}n{\'e}dicte Mousson de Camaret and Sandrine Marlin and Claire Marie Dhaenens and Abdelhamid Slama and Christophe Rocher and Jean Paul Bonnefont and Agn{\`e}s R{\"o}tig and Nadia Aoutil and Myl{\`e}ne Gilleron and Val{\'e}rie Desquiret-Dumas and Pascal Reynier and Jennifer Ceresuela and Laurence Jonard and Aurore Devos and Caroline Espil-Taris and Delphine Martinez and Pauline Gaignard and Kim-Hanh Le Quan Sang and Patrizia Amati-Bonneau and Marni J. Falk and Catherine Florentz and Brigitte Chabrol and Isabelle Durand-Zaleski and V{\'e}ronique Paquis-Flucklinger},
  booktitle={Journal of medical genetics},
BACKGROUND Mitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. Patients are usually tested only for deletions and for common mutations of mtDNA which account for 5-40% of cases, depending on the study. However, the prevalence of rare mtDNA mutations is not known. METHODS We analysed the whole mtDNA in a cohort of 743 patients suspected of manifesting a mitochondrial disease, after excluding deletions and common mutations. Both heteroplasmic… CONTINUE READING
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, a database of mammalian mitochondrial tRNA primary and secondary structures

  • C Florentz, M Sissler
  • 2007

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