A novel mitochondrial mutation causing chronic progressive external ophthalmoplegia and myopathy

Takeaway

  • M.441T>C was identified in the mitochondrial tRNAMet gene (MT-TM) as a novel, pathogenic, de novo mutation in an adult with chronic progression external ophthalmoplegia (CPEO) and myopathy.

Why this matters

    The relatively low mutational load and muscular restriction of CPEO mutations highlights that a diagnostic muscle biopsy should be used for mtDNA investigation in people displaying a myopathic phenotype.