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Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype.
Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, Marcorelles P, Avila-Smirnow D, Chelbi M, Romero NB, Carlier RY, Estournet B, Guicheney P, Seta N. Vuillaumier-Barrot S, et al. Neuromuscul Disord. 2009 Mar;19(3):182-8. doi: 10.1016/j.nmd.2008.12.005. Neuromuscul Disord. 2009. PMID: 19179078
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A. Avila-Smirnow D, et al. Rev Neurol (Paris). 2016 Oct;172(10):594-606. doi: 10.1016/j.neurol.2016.07.017. Epub 2016 Sep 12. Rev Neurol (Paris). 2016. PMID: 27633507 Review.
Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.
Avila-Smirnow D, Vargas Leal CP, Beytía Reyes MLA, Cortés Zepeda R, Escobar RG, Kleinsteuber Saa K, Lagos Lucero M, Avaria Benapres MLA, Padilla Pérez O, Casar Leturia JC, Mellado Sagredo C, Sternberg D. Avila-Smirnow D, et al. Neuromuscul Disord. 2020 Jul;30(7):554-561. doi: 10.1016/j.nmd.2020.04.006. Epub 2020 May 19. Neuromuscul Disord. 2020. PMID: 32593548
Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.
Avila-Smirnow D, Boutron A, Beytía-Reyes MLÁ, Contreras-Olea O, Caicedo-Feijoo A, Gejman-Enríquez R, Escobar-Henríquez R, Förster-Mujica J. Avila-Smirnow D, et al. J Med Case Rep. 2018 Aug 28;12(1):249. doi: 10.1186/s13256-018-1702-3. J Med Case Rep. 2018. PMID: 30149802 Free PMC article.
15 results