Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.

Published in: Acta neurologica Scandinavica (2021)

MT-ATP6-associated LS patients presented with a broad spectrum of clinical diagnoses and had a very high heteroplasmic mutant load. This study provides valuable data on MT-ATP6-associated LS that will inform subsequent studies on LS.

Keyphrases

end stage renal disease
chronic kidney disease
ejection fraction
newly diagnosed
peritoneal dialysis
electronic health record
patient reported outcomes
case report
deep learning
case control
data analysis