Charcot-Marie-Tooth Disease Type 2E

About the Disease
Charcot-Marie-Tooth Disease, Axonal, Type 2e, also known as charcot-marie-tooth disease type 2, is related to charcot-marie-tooth disease, axonal, type 2j and charcot-marie-tooth disease, axonal, type 2t. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2e is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2), and among its related pathways/superpathways are Cytoskeletal Signaling and tRNA Aminoacylation. Affiliated tissues include skeletal muscle, heart and cortex, and related phenotypes are upper limb muscle weakness and peripheral axonal neuropathy

Common Targets
MPV17

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