PedAM
Pediatric Disease Annotations & Medicines
| Disease | myopathy |
| Phenotype | C0025362|mental retardation |
| Sentences | 2 |
| PubMedID- 23800289 | In muscle biopsies, patients 1 and 3 showed a poorly defined congenital myopathy, which was associated with mental retardation in patient 1. patient 2 presented a clinical and pathological picture typical of muscular dystrophy, with substantial fatty acid replacement and fiber size variation (mim 613204) [44]. |
| PubMedID- 19929948 | Mutations in lamp-2 gene cause danon disease, a fatal cardiomyopathy and myopathy associated with mental retardation. |
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