Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

BACKGROUND: Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of longitudinal data means the natural history remains unclear. This study was undertaken to describe the clinical spectrum in a larg...

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Detalles Bibliográficos
Autores principales: Björkman, Kristoffer, Vissing, John, Østergaard, Elsebet, Bindoff, Laurence A, de Coo, Irenaeus F M, Engvall, Martin, Hikmat, Omar, Isohanni, Pirjo, Kollberg, Gittan, Lindberg, Christopher, Majamaa, Kari, Naess, Karin, Uusimaa, Johanna, Tulinius, Mar, Darin, Niklas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811091/
https://www.ncbi.nlm.nih.gov/pubmed/34872991
http://dx.doi.org/10.1136/jmedgenet-2021-108006

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