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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease lambert-eaton myasthenic syndrome
Comorbidity C0026850|muscular dystrophy
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PubMedID- 25318670 Mutations in the cytolinker protein plectin lead to grossly distorted morphology of neuromuscular junctions (nmjs) in patients suffering from epidermolysis bullosa simplex (ebs)-muscular dystrophy (ms) with myasthenic syndrome (mys).

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