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

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.

The authors report a Japanese family segregating autosomal recessive Charcot-Marie-Tooth disease (CMT) with focally folded myelin, juvenile-onset glaucoma, and a nonsense mutation of SET binding factor 2 (SBF2). The consistent phenotypic features associated with SBF2 mutations are early-onset demyelinating neuropathy, myelin folding, and markedly decreased motor nerve conduction velocities; glaucoma associates with SBF2 nonsense mutations.[1]

References

  1. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Hirano, R., Takashima, H., Umehara, F., Arimura, H., Michizono, K., Okamoto, Y., Nakagawa, M., Boerkoel, C.F., Lupski, J.R., Osame, M., Arimura, K. Neurology (2004) [Pubmed]
 
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