Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines




Disease myopathy
Phenotype C0162674|chronic progressive external ophthalmoplegia
Sentences 2
PubMedID- 20022607 Pathogenic mutations in the trna(leu(ucn)) gene of mitochondrial dna (mtdna) have been invariably accompanied by skeletal myopathy with or without chronic progressive external ophthalmoplegia (cpeo).
PubMedID- 25299315 Rywlin international pathology slide series: mitochondrial myopathy presenting with chronic progressive external ophthalmoplegia (cpeo): a case report.

Page: 1