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Screening of the CAPN3 gene in patients with possible LGMD2A

2006; Wiley; Volume: 69; Issue: 5 Linguagem: Inglês

10.1111/j.1399-0004.2006.00603.x

1399-0004

Martin Krahn, Rafaëlle Bernard, Christophe Pécheux, El Hadi Hammouda, B. Eymard, Adolfo López de Munaín, A.M. Cobo, Norma B. Romero, Andoni Urtizberea, France Leturcq, Nicolas Lévy,

Calpain Protease Function and Regulation

Clinical GeneticsVolume 69, Issue 5 p. 444-449 Screening of the CAPN3 gene in patients with possible LGMD2A Martin Krahn, Martin Krahn Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France.Search for more papers by this authorRafaëlle Bernard, Rafaëlle Bernard Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France.Search for more papers by this authorChristophe Pécheux, Christophe Pécheux Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France.Search for more papers by this authorEl Hadi Hammouda, El Hadi Hammouda AFM et Généthon, Evry, France.Search for more papers by this authorBruno Eymard, Bruno Eymard Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France.Search for more papers by this authorAdolfo Lopez de Munain, Adolfo Lopez de Munain servicio de Neurologia, Unidad de Genetica e Unidad experimental, Hospital Donostia, San Sebastian, Basque CountrySearch for more papers by this authorAnna Maria Cobo, Anna Maria Cobo servicio de Neurologia, Unidad de Genetica e Unidad experimental, Hospital Donostia, San Sebastian, Basque CountrySearch for more papers by this authorNorma Romero, Norma Romero Institut de Myologie, Hôpital de la Salpétrière, Paris, France.Search for more papers by this authorAndoni Urtizberea, Andoni Urtizberea AFM et Généthon, Evry, France.Search for more papers by this authorFrance Leturcq, France Leturcq Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris, France.Search for more papers by this authorNicolas Lévy, Corresponding Author Nicolas Lévy Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France. Inserm U491 "Génétique, Médicale et Développement", Faculté de Médecine de Marseille, France. Professor Nicolas Levy Département de Génétique Médicale Laboratoire de Génétique Moléculaire Hôpital d'enfants de la Timone 254 Rue Saint Pierre 13385 Marseille Cedex 05 France Tel.: 33 4 91 38 77 87 Fax: 33 4 91 38 48 76 e-mail: [email protected]Search for more papers by this authorThe Calpain study group of the French LGMD network, The Calpain study group of the French LGMD network Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France.Search for more papers by this author Martin Krahn, Martin Krahn Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France.Search for more papers by this authorRafaëlle Bernard, Rafaëlle Bernard Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France.Search for more papers by this authorChristophe Pécheux, Christophe Pécheux Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France.Search for more papers by this authorEl Hadi Hammouda, El Hadi Hammouda AFM et Généthon, Evry, France.Search for more papers by this authorBruno Eymard, Bruno Eymard Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France.Search for more papers by this authorAdolfo Lopez de Munain, Adolfo Lopez de Munain servicio de Neurologia, Unidad de Genetica e Unidad experimental, Hospital Donostia, San Sebastian, Basque CountrySearch for more papers by this authorAnna Maria Cobo, Anna Maria Cobo servicio de Neurologia, Unidad de Genetica e Unidad experimental, Hospital Donostia, San Sebastian, Basque CountrySearch for more papers by this authorNorma Romero, Norma Romero Institut de Myologie, Hôpital de la Salpétrière, Paris, France.Search for more papers by this authorAndoni Urtizberea, Andoni Urtizberea AFM et Généthon, Evry, France.Search for more papers by this authorFrance Leturcq, France Leturcq Laboratoire de Biochimie Génétique, Hôpital Cochin, Paris, France.Search for more papers by this authorNicolas Lévy, Corresponding Author Nicolas Lévy Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France. Inserm U491 "Génétique, Médicale et Développement", Faculté de Médecine de Marseille, France. Professor Nicolas Levy Département de Génétique Médicale Laboratoire de Génétique Moléculaire Hôpital d'enfants de la Timone 254 Rue Saint Pierre 13385 Marseille Cedex 05 France Tel.: 33 4 91 38 77 87 Fax: 33 4 91 38 48 76 e-mail: [email protected]Search for more papers by this authorThe Calpain study group of the French LGMD network, The Calpain study group of the French LGMD network Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille, France.Search for more papers by this author First published: 28 March 2006 https://doi.org/10.1111/j.1399-0004.2006.00603.xCitations: 15Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Richard I, Roudaut C, Saenz A et al. Calpainopathy-a survey of mutations and polymorphisms. Am J Hum Genet 1999: 64: 1524–1540. 2 Leiden Muscular Dystrophy Pages©: http://www.dmd.nl. 3 Saenz A, Leturcq F, Cobo AM et al. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain 2005: 128: 732–742. 4 Fanin M, Fulizio L, Nascimbeni AC et al. Molecular diagnosis in LGMD2A: mutation analysis or protein testing? Hum Mutat 2004: 24: 52–62. 5 Anderson LV, Harrison RM, Pogue R et al. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 2000: 10: 553–559. 6 Haravuori H, Vihola A, Straub V et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology 2001: 56: 869–877. Citing Literature Volume69, Issue5May 2006Pages 444-449 ReferencesRelatedInformation