Article
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
Journal of medical genetics - 1 Oct 2013
Bannwarth Sylvie, Procaccio Vincent, Lebre Anne Sophie, Jardel Claude, Chaussenot Annabelle, Hoarau Claire, Maoulida Hassani, Charrier Nathanaël, Gai Xiaowu, Xie Hongbo M, Ferre Marc, Fragaki Konstantina, Hardy Gaëlle, Mousson de Camaret Bénédicte, Marlin Sandrine, Dhaenens Claire Marie, Slama Abdelhamid, Rocher Christophe, Paul Bonnefont Jean, Rötig Agnès, Aoutil Nadia, Gilleron Mylène, Desquiret-Dumas Valérie, Reynier Pascal, Ceresuela Jennifer, Jonard Laurence, Devos Aurore, Espil-Taris Caroline, Martinez Delphine, Gaignard Pauline, Le Quan Sang Kim-Hanh, Amati-Bonneau Patrizia, Falk Marni J, Florentz Catherine, Chabrol Brigitte, Durand-Zaleski Isabelle, Paquis-Flucklinger Véronique
Abstract excerpt
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...
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