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Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.
Landouré G, Mochel F, Meilleur K, Ly M, Sangaré M, Bocoum N, Bagayoko K, Coulibaly T, Sarr AM, Bâ HO, Coulibaly S, Guinto CO, Touré M, Traoré M, Fischbeck KH. Landouré G, et al. J Neurol. 2013 Jan;260(1):324-6. doi: 10.1007/s00415-012-6738-5. Epub 2012 Nov 11. J Neurol. 2013. PMID: 23142947 Free PMC article. No abstract available.
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center; Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. Landouré G, et al. Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23857908 Free PMC article.