Charcot-Marie-Tooth disease type 1X (CMTX)
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Genetics
- defects in GJB1 are the cause of Charcot-Marie-Tooth disease, X-linked dominant, 1
- 2 families with point mutation, one with frameshift mutation described[1]
Laboratory
More general terms
References
- ↑ Jump up to: 1.0 1.1 Bruzzone et al. Neuron 13:1253-60 1994