PedAM
Pediatric Disease Annotations & Medicines
| Disease | myopathy |
| Phenotype | C0086543|cataract |
| Sentences | 2 |
| PubMedID- 22091729 | No additional symptoms such as cranial nerve involvement, cataract, and signs of neutropenia or myopathy syndrome were observed in any member of the family yet. |
| PubMedID- 22292055 | Recently, the first human disease due to alr r194h mutation has been identified as an autosomal-recessive infantile mitochondrial disorder presenting myopathy with cataract and combined respiratory-chain deficiency [13]. |
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