Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
Mutation Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3786640/
https://www.ncbi.nlm.nih.gov/pubmed/23847141
http://dx.doi.org/10.1136/jmedgenet-2013-101604

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3786640/
https://www.ncbi.nlm.nih.gov/pubmed/23847141
http://dx.doi.org/10.1136/jmedgenet-2013-101604

Ejemplares similares