Causative factors of chronic progressive external ophthalmoplegia

Takeaway

  • Distinct segregation of the heteroplasmic pathogenic m.5667G>A mitochondrial tRNAASN mutation is different in extraocular muscle (EOM) and skeletal muscle (SKM).

Why this matters

  • This mutation might explain the preferential involvement of EOM and the clinical manifestation of isolated chronic progressive external ophthalmoplegia (CPEO).