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PedAM

Pediatric Disease Annotations & Medicines




Disease c syndrome
Phenotype C0026848|muscular diseases
Sentences 2
PubMedID- 22578719 The myotubularin family of phosphoinositide phosphatases includes several members mutated in neuromuscular diseases or associated with metabolic syndrome, obesity, and cancer.
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).

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