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A novel mutation in a large French-Canadian family with LGMD1B.
Chrestian N, Valdmanis PN, Echahidi N, Brunet D, Bouchard JP, Gould P, Rouleau GA, Champagne J, Dupré N. Chrestian N, et al. Among authors: rouleau ga. Can J Neurol Sci. 2008 Jul;35(3):331-4. doi: 10.1017/s031716710000891x. Can J Neurol Sci. 2008. PMID: 18714801
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA. Howard HC, et al. Among authors: rouleau ga. Nat Genet. 2002 Nov;32(3):384-92. doi: 10.1038/ng1002. Epub 2002 Oct 7. Nat Genet. 2002. PMID: 12368912
[Severe neuropathy with agenesis of the corpus callosum].
Howard HC, Dupré N, Mathieu J, Bouchard JP, Rouleau GA. Howard HC, et al. Among authors: rouleau ga. Med Sci (Paris). 2003 Apr;19(4):414-6. doi: 10.1051/medsci/2003194414. Med Sci (Paris). 2003. PMID: 12836214 Free article. French. No abstract available.
807 results