Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
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Author / Creator
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 and Paquis-Flucklinger, Véronique
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
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Scope and Contents
Contents
Abstract 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 who...
Alternative Titles
Full title
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3786640
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3786640
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2013-101604
