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Select item 88539281.

Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos

Joanna May S Quilacio, Raymond L Rosales, Encarnita R Ampil

Cureus. 2022 Jan; 14(1): e21353. Published online 2022 Jan 18. doi: 10.7759/cureus.21353

PMCID:: PMC8853928

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Select item 77398122.

Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families

Jie Zheng, Xiaowei Xu, Xinjie Zhang, Xuetao Wang, Jianbo Shu, Chunquan Cai

Exp Ther Med. 2021 Feb; 21(2): 104. Published online 2020 Nov 27. doi: 10.3892/etm.2020.9536

PMCID:: PMC7739812

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Select item 73975293.

Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A

William Lostal, Carinne Roudaut, Marine Faivre, Karine Charton, Laurence Suel, Nathalie Bourg, Heather Best, John Edward Smith, Jochen Gohlke, Guillaume Corre, Xidan Li, Zaher Elbeck, Ralph Knöll, Jack-Yves Deschamps, Henk Granzier, Isabelle Richard

Sci Transl Med. Author manuscript; available in PMC 2020 Aug 3.

Published in final edited form as: Sci Transl Med. 2019 Nov 27; 11(520): eaat6072. doi: 10.1126/scitranslmed.aat6072

PMCID:: PMC7397529

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Select item 68594134.

Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia

STOJAN PERIC, JELENA STEVANOVIC, KATHERINE JOHNSON, ANA KOSAC, MARINA PERIC, MARIJA BRANKOVIC, ANA MARJANOVIC, MILENA JANKOVIC, BOJAN BANKO, SANJA MILENKOVIC, MILICA DURDIC, IVO BOZOVIC, JELENA NIKODINOVIC GLUMAC, DRAGANA LAVRNIC, RUZICA MAKSIMOVIC, VEDRANA MILIC-RASIC, VIDOSAVA RAKOCEVIC-STOJANOVIC

Acta Myol. 2019 Sep; 38(3): 163–171. Published online 2019 Sep 1.

PMCID:: PMC6859413

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Select item 52458895.

Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation

Carlos A. Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C. Zenteno

PLoS One. 2017; 12(1): e0170280. Published online 2017 Jan 19. doi: 10.1371/journal.pone.0170280

PMCID:: PMC5245889

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Select item 25979606.

Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A

M Fanin, L Nardetto, A C Nascimbeni, E Tasca, M Spinazzi, R Padoan, C Angelini

J Med Genet. 2007 Oct; 44(10): 609–614. Published online 2007 May 25. doi: 10.1136/jmg.2007.050328

PMCID:: PMC2597960

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Select item 18530467.

Characterization of Monoclonal Antibodies to Calpain 3 and Protein Expression in Muscle from Patients with Limb-Girdle Muscular Dystrophy Type 2A

Louise V. B. Anderson, Keith Davison, Jennifer A. Moss, Isabelle Richard, Michel Fardeau, Fernando M. S. Tomé, Christoph Hübner, Adriana Lasa, Jaume Colomer, Jacques S. Beckmann

Am J Pathol. 1998 Oct; 153(4): 1169–1179. doi: 10.1016/S0002-9440(10)65661-1

PMCID:: PMC1853046

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Select item 18010818.

Preferential Localization of the Limb-Girdle Muscular Dystrophy Type 2A Gene in the Proximal Part of a 1-cM 15q15.1-q15.3 Interval

V. Allamand, O. Broux, I. Richard, F. Fougerousse, N. Chiannilkulchai, N. Bourg, L. Brenguier, C. Devaud, P. Pasturaud, A. Pereira de Souza, C. Roudaut, J. A Tischfield, P. M. Conneally, M. Fardeau, D. Cohen, C. E. Jackson, J. S. Beckmann

Am J Hum Genet. 1995 Jun; 56(6): 1417–1430.

PMCID:: PMC1801081

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Select item 17124269.

Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.

I Richard, L Brenguier, P Dinçer, C Roudaut, B Bady, J M Burgunder, R Chemaly, C A Garcia, G Halaby, C E Jackson, D M Kurnit, G Lefranc, C Legum, J Loiselet, L Merlini, A Nivelon-Chevallier, E Ollagnon-Roman, G Restagno, H Topaloglu, J S Beckmann

Am J Hum Genet. 1997 May; 60(5): 1128–1138.

PMCID:: PMC1712426

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Select item 1056597710.

Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions

Anabel Rico, Andrea Valls, Garazi Guembelzu, Margarita Azpitarte, Ana Aiastui, Mónica Zufiria, Oihane Jaka, Adolfo López de Munain, Amets Sáenz

Orphanet J Rare Dis. 2023; 18: 315. Published online 2023 Oct 10. doi: 10.1186/s13023-023-02873-5

PMCID:: PMC10565977

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Select item 1023420811.

Revisiting idiopathic eosinophilic myositis: towards a clinical-pathological continuum from the muscle to the fascia and skin

Cécile Fermon, Lola E R Lessard, Tanguy Fenouil, Alain Meyer, Marie Faruch-Bilfeld, Marie Robert, Verena Landel, Arnaud Hot, François-Jérôme Authier, Nathalie Streichenberger, Laure Gallay

Rheumatology (Oxford) 2023 Jun; 62(6): 2220–2229. Published online 2022 Oct 6. doi: 10.1093/rheumatology/keac556

PMCID:: PMC10234208

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Select item 985463912.

A Case of Bovine Eosinophilic Myositis (BEM) Associated with Co-Infection by Sarcocystis hominis and Toxoplasma gondii

Filippo Maria Dini, Monica Caffara, Joana G. P. Jacinto, Cinzia Benazzi, Arcangelo Gentile, Roberta Galuppi

Animals (Basel) 2023 Jan; 13(2): 311. Published online 2023 Jan 16. doi: 10.3390/ani13020311

PMCID:: PMC9854639

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Select item 966900613.

Quantitative muscle MRI captures early muscle degeneration in calpainopathy

Johannes Forsting, Marlena Rohm, Martijn Froeling, Anne-Katrin Güttsches, Nicolina Südkamp, Andreas Roos, Matthias Vorgerd, Lara Schlaffke, Robert Rehmann

Sci Rep. 2022; 12: 19676. Published online 2022 Nov 16. doi: 10.1038/s41598-022-23972-6