PedAM
Pediatric Disease Annotations & Medicines
| Disease | n syndrome |
| Phenotype | C0026850|muscular dystrophy |
| Sentences | 3 |
| PubMedID- 22761912 | The blood creatin phosphokinase enzyme and urine glycerol were normal in all cases, indicating that there was no contiguous deletion syndrome with duchenne muscular dystrophy or glycerol kinase deficiency. |
| PubMedID- 24528510 | Complex regional pain syndrome in a patient with muscular dystrophy. |
| PubMedID- 20215435 | Mutations in the human rrm2b gene encoding an alternative small rnr subunit were demonstrated to be associated with mitochondrial (mt) dna depletion syndrome (mds) leading to muscular dystrophy (35), autosomal-dominant progressive external ophthalmoplegia (adpeo) leading to weakness of the external eye muscles and exercise intolerance (36) and mitochondrial neurogastrointestinal encephalopathy (mngie) (37). |
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