Case report of 46-year-old patient with MTFMT-related, adult-onset Leigh syndrome


  • A 46-year-old woman displayed adult-onset Leigh syndrome related to mutation in the MTFMT gene.

Why this matters

  • Adult onset Leigh syndrome related to MTFMT mutation has only previously been reported in those between 14 months and 24 years of age; this report extends the phenotypical spectrum of MTFMT-related neurological disease.