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Results 1 - 3 of 3 for "Charcot-Marie-Tooth" "disease," type 1E
  1. PMP22 gene 
    ... experienced by some people with a form of Charcot-Marie-Tooth disease called type 1E (CMT1E). CMT1E is associated with particular amino acid substitutions and deletions in the PMP22 gene. The most frequently reported mutation ... disease sometimes referred to as Dejerine-Sottas disease or ...
    https://medlineplus.gov/genetics/gene/pmp22 - Genetics
  2. ATP7A gene 
    ... 8. doi: 10.1097/01.gim.0000245578.94312.1e. Citation on PubMed Voskoboinik I, Camakaris J. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. J Bioenerg Biomembr. 2002 Oct;34(5):363- ...
    https://medlineplus.gov/genetics/gene/atp7a - Genetics
  3. DNMT1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease More About This Health Condition Several normal variations ( ...
    https://medlineplus.gov/genetics/gene/dnmt1 - Genetics