Gene Expression Profiling in Limb-Girdle Muscular Dystrophy 2A.

Autor: Amets Sáenz¹ amets.saenzpena@osakidetza.net, Azpitarte, Margarita¹, Armañanzas, Rubén², Leturcq, France³, Alzualde, Ainhoa¹, Inza, Iñaki², García-Bragado, Federico⁴, de la Herran, Gaspar⁵, Corcuera, Julián⁵, Cabello, Ana⁶, Navarro, Carmen⁷, de la Torre, Carolina⁸, Gallardo, Eduard⁸, Illa, Isabel⁹, de Munain, Adolfo López¹⁰

Publikováno v: PLoS ONE. 2008, Vol. 3 Issue 11, p1-14. 14p. 3 Charts, 2 Graphs.

ENTIRE CAPN3 GENE DELETION IN A PATIENT WITH LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2A

Autor: Jaka, Oihane, Azpitarte, Margarita, Paisan-Ruiz, Coro, Zulaika, Miren, Casas-Fraile, Leire, Sanz, Raul, Trevisiol, Nathalie, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin, Munain, Adolfo, Saenz, Amets

Publikováno v: Muscle and Nerve
Muscle and Nerve, Wiley, 2014, 50 (3), pp.448-453. ⟨10.1002/mus.24263⟩
Muscle & Nerve
Muscle & Nerve, 2014, 50 (3), pp.448-453. ⟨10.1002/mus.24263⟩

International audience; Limb-girdle muscular dystrophy type 2A (LGMD2A) due to mutations in the CAPN3 gene is one of the most common of autosomal recessive limb-girdle muscular dystrophies. We describe a patient who had a typical LGMD2A phenotype and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ffb004966e964ee3ea544268f6a2966d
https://hal.archives-ouvertes.fr/hal-01610018

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Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.

Autor: Jaka O; Neurosciences Area, Biodonostia Institute, Hospital Universitario Donostia, 20014, San Sebastián, Spain., Azpitarte M, Paisán-Ruiz C, Zulaika M, Casas-Fraile L, Sanz R, Trevisiol N, Levy N, Bartoli M, Krahn M, López de Munain A, Sáenz A

Publikováno v: Muscle & nerve [Muscle Nerve] 2014 Sep; Vol. 50 (3), pp. 448-53. Date of Electronic Publication: 2014 Aug 05.