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A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.

Daniele SalaSilvia MarchetLorenzo NanettiAndrea LegatiCaterina MariottiEleonora LamanteaDaniele GhezziAlessia CataniaCostanza Lamperti
Published in: Orphanet journal of rare diseases (2024)
We describe a novel pathogenic mtDNA variant in MT-ATP6 associated with adult-onset ataxia, reinforcing the value of mtDNA screening within the diagnostic workflow of selected patients with late onset ataxias.
Keyphrases
  • late onset
  • early onset
  • end stage renal disease
  • mitochondrial dna
  • chronic kidney disease
  • ejection fraction
  • copy number
  • newly diagnosed
  • peritoneal dialysis
  • gene expression
  • cord blood
  • genome wide
  • case control