Disease

X-linked Charcot-Marie-Tooth Disease

About the Disease
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1, also known as charcot-marie-tooth disease x-linked dominant 1, is related to charcot-marie-tooth disease, x-linked recessive, 2 and charcot-marie-tooth disease, x-linked recessive, 5, and has symptoms including numbness, tremor and paraparesis. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 is GJB1 (Gap Junction Protein Beta 1), and among its related pathways/superpathways are Neural crest differentiation and tRNA Aminoacylation. Affiliated tissues include smooth muscle, spinal cord and brain, and related phenotypes are areflexia and sensory neuropathy

Common Targets
GJB2 | PMP22 | GJB1

疾病靶点研报
X-linked Charcot-Marie-Tooth Disease

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