Summary
The discovery that X-linked Charcot-Marie-Tooth disease (CMTX) is caused by mutations in connexin32 (Cx32)1 has united the fields of molecular genetics, neurology, and gap junction biology by demonstrating the importance of Cx32 in myelinating Schwann cells. The lack of overt clinical manifestations in other tissues that express Cx32 suggests the existence of compensatory mechanisms elsewhere that are absent in peripheral nerve. Determining the mechanism by which Cx32 mutations cause the phenotype of CMTX will contribute to the understanding of the function of the myelin sheath and elucidate the role of Cx32 in other tissues.
â... that the women of this family, themselves even uncommonly buxom and healthy, should be able to ... transmit to the males alone tissues unlike their own, and endowed with a regular form of weakness which they do not themselves possess, is ... marvelous. It seems as if the daughter of a diseased father carried from the beginning of her life ova of two sexes, the female healthy, the male containing within it the representation of the fatherâs disease.â
Herringham (1888)
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DeschĂȘnes, S.M., Bone, L.J., Fischbeck, K.H., Scherer, S.S. (1996). Connexin32 and X-Linked-Charcot-Marie-Tooth Disease. In: Gap Junctions in the Nervous System. Neuroscience Intelligence Unit. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-21935-5_13
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