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PedAM

Pediatric Disease Annotations & Medicines




Disease myopathy
Phenotype C0031117|peripheral neuropathy
Sentences 2
PubMedID- 25206731 It is characterized by choreic movements, peripheral neuropathy with areflexia, myopathy, cardiomyopathy (about two-thirds of patients), elevated serum creatine kinase levels and a permanent hemolytic state[35].
PubMedID- 21867371 In adults, coq10 deficiency manifests as adult-onset myopathy or ataxia with variable myopathy, peripheral neuropathy, and/or seizures (14–16).

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