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

Conclusion Our study provides new insights into the phenotypic spectrum of childhood-onset, LMD-associated syndromes. We found a wider spectrum of more prevalent multisystem involvement compared with previous studies, most likely related to a longer time of follow-up.

http://jmg.bmj.com/cgi/content/short/60/1/65?rss=1

Source: Journal of Medical Genetics - December 23, 2022 Category: Genetics & Stem Cells Authors: Björkman, K., Vissing, J., Ostergaard, E., Bindoff, L. A., de Coo, I. F. M., Engvall, M., Hikmat, O., Isohanni, P., Kollberg, G., Lindberg, C., Majamaa, K., Naess, K., Uusimaa, J., Tulinius, M., Darin, N. Tags: Open access Genotype-phenotype correlations Source Type: research