A novel m.14677 T > C variant in mitochondrial tRNA^Glu gene causes chronic progressive external ophthalmoplegia.

ABSTRACT: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by progressive ptosis and ophthalmoplegia, caused by single deletions, point mutations, or multiple deletions in mitochondrial DNA (mtDNA). Most point mutations occur in tRNA genes. Here, we report a novel variant of the tRNA^Glu gene associated with CPEO. A 45-year-old male presented with ptosis and external ophthalmoplegia; however, blood test results, including lactate levels and autoantibodies, were normal. CPEO was suspended, prompting additional myopathological examination, mtDNA sequencing analysis, long polymerase chain reaction (PCR) analysis, and single-fiber analysis to compare mutation loads between ragged-red fibers (RRFs) and non-RRFs. Histopathological examination revealed

SUBMITTER: Ueda NK 

PROVIDER: S-EPMC12460166 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature