PedAM
Pediatric Disease Annotations & Medicines
| Disease | myopathy |
| Phenotype | C0029089|ophthalmoplegia |
| Sentences | 5 |
| PubMedID- 24193343 | Homozygous or compound heterozygous truncating myh2 mutations have been demonstrated to cause recessive myopathy with ophthalmoplegia, mild-to-moderate muscle weakness and complete lack of type 2a muscle fibers. |
| PubMedID- 26247046 | In f045, the severe congenital myopathy with ophthalmoplegia strongly suggested pathogenic variants in ryr1, but no pathogenic variants in ryr1 were identified. |
| PubMedID- 23388406 | Myh2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. |
| PubMedID- 25299315 | A 43-year-old female patient diagnosed with chronic progressive external ophthalmoplegia (cpeo) because of mitochondrial myopathy documented by muscle biopsy is presented. |
| PubMedID- 25529940 | Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(leu1877pro) mutation in myh2. |
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