Mitochondrial Dna Depletion Syndrome 11 (MTDPS11)

Mitochondrial Dna Depletion Syndrome 11, also known as progressive external ophthalmoplegia-myopathy-emaciation syndrome, is related to chronic progressive external ophthalmoplegia and mitochondrial dna depletion syndrome, and has symptoms including dyspnea and facial paresis. An important gene associated with Mitochondrial Dna Depletion Syndrome 11 is MGME1 (Mitochondrial Genome Maintenance Exonuclease 1), and among its related pathways/superpathways is Energy metabolism. Affiliated tissues include skeletal muscle and eye, and related phenotypes are progressive external ophthalmoplegia and ptosis