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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

Periaxin (PRX) plays a significant role in the myelination of the peripheral nerve. To date, seven non-sense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or severe Charcot-Marie-Tooth neuropathy (CMT). We detected a PRX mutation in three patients in the screening of 66 Japanese demyelinating CMT patients who were negative for the gene mutation causing dominant or X-linked demyelinating CMT. Three unrelated patients were homozygous for a novel R1070X mutation and presented early-onset but slowly progressive distal motor and sensory neuropathies. Mutations lacking the carboxyl-terminal acidic domain may show loss-of-function effects and cause severe demyelinating CMT.[1]

References

  1. Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. Kijima, K., Numakura, C., Shirahata, E., Sawaishi, Y., Shimohata, M., Igarashi, S., Tanaka, T., Hayasaka, K. J. Hum. Genet. (2004) [Pubmed]
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