Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations.

Amanda RamosM PlanchatA R Vieira MeloM RaposoU ShamimV SuroliyaA K SrivastavaM FaruqH MorinoR OhsawaH KawakamiLaura Bannach Jardim Maria-Luiza Saraiva-PereiraJ VasconcelosC SantosM Lima

Published in: European journal of neurology (2018)

These findings suggest that haplogroups JT, W and X modify AO in MJD. Replication studies should be performed in European populations, where the frequency of the candidate modifiers is similar.

Keyphrases

mitochondrial dna
end stage renal disease
copy number
ejection fraction
chronic kidney disease
newly diagnosed
early onset
gene expression
dna methylation
patient reported outcomes
genetic diversity
case control