Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

BACKGROUND: Single large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs) are amongst the most frequently diagnosed mtDNA disorders in childhood, yet their natural history remains poorly understood. We report the natural history of a large multicentre cohort of such children. METHODS: We reviewed...

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Detalles Bibliográficos
Autores principales: Broomfield, Alexander, Sweeney, Mary G., Woodward, Cathy E., Fratter, Carl, Morris, Andrew M., Leonard, James V., Abulhoul, Lara, Grunewald, Stephanie, Clayton, Peter T., Hanna, Michael G., Poulton, Joanna, Rahman, Shamima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432108/
https://www.ncbi.nlm.nih.gov/pubmed/25352051
http://dx.doi.org/10.1007/s10545-014-9778-4

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