PedAM
Pediatric Disease Annotations & Medicines
| Disease | c syndrome |
| Phenotype | C0027868|neuromuscular disease |
| Sentences | 2 |
| PubMedID- 23351377 | The myotubularin family of phosphoinositide phosphatases includes 15 members (namely mtm1 and mtmrs 1-14) in humans that are mutated in neuromuscular diseases, or associated with metabolic syndrome, obesity, and cancer (22, 24). |
| PubMedID- 22578719 | The myotubularin family of phosphoinositide phosphatases includes several members mutated in neuromuscular diseases or associated with metabolic syndrome, obesity, and cancer. |
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