| 1 | CAPN3, LGMD2A
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| Entire CAPN3 gene deletion in a patient with limb girdle muscular dystrophy type 2A.
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| Jaka O, 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.
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| Muscle Nerve uscle Nerve. 2014 Apr 9. doi: 10.1002/mus.24263. [Epub ahead of print]
2014
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| 2 | CAPN3, LGMD2A
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| CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements.
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| Salem IH, Hsairi I, Mezghani N, Kenoun H, Triki C, Fakhfakh F.
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| J Hum Genet 57(2):92-100. doi: 10.1038/jhg.2011.129. Epub 2011 Dec 8.
2012
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| 3 | CAPN3, LGMD2A
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| Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.
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| Hauerslev S, Sveen ML, Duno M, Angelini C, Vissing J, Krag TO.
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| BMC Musculoskelet Disord 13:43. doi: 10.1186/1471-2474-13-43.
2012
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| 4 | CAPN3, LGMD2A
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| Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
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| Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, Lévy N, Lopez de Munain A.
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| Clin Genet 80(4):398-402. doi: 10.1111/j.1399-0004.2010.01620.x. No abstract available.
2011
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| 5 | CAPN3, LGMD2A
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| Transcriptional and translational effects of intronic CAPN3 gene mutations.
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| Nascimbeni AC, Fanin M, Tasca E, Angelini C.
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| Hum Mutat 31(9):E1658-69.PMID: 20635405 2010
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| 6 | CAPN3, LGMD2A
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| Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy.
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| Ojima K, Kawabata Y, Nakao H, Nakao K, Doi N, Kitamura F, Ono Y, Hata S, Suzuki H, Kawahara H, Bogomolovas J, Witt C, Ottenheijm C, Labeit S, Granzier H, Toyama-Sorimachi N, Sorimachi M, Suzuki K, Maeda T, Abe K, Aiba A, Sorimachi H.
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| J Clin Invest 120(8):2672-83. doi: 10.1172/JCI40658. Epub 2010 Jul 1.PMID: 20592470 2010
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| 7 | CAPN3, LGMD2A
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| Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
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| Krahn M, Goicoechea M, Hanisch F, Groen E, Bartoli M, Pécheux C, Garcia-Bragado F, Leturcq F, Jeannet PY, Lobrinus JA, Jacquemont S, Strober J, Urtizberea JA, Saenz A, Bushby K, Lévy N, Lopez de Munain A.
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| Clin Genet lin Genet. 2010 Dec 27. doi: 10.1111/j.1399-0004.2010.01620.x. [Epub ahead of print] No abstract available.
2010
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| 8 | CAPN3, LGMD2A
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| Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.
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| Kramerova I, Kudryashova E, Wu B, Germain S, Vandenborne K, Romain N, Haller RG, Verity MA, Spencer MJ.
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| Hum Mol Genet 18(17):3194-205. Epub 2009 May 29.PMID: 19483197 2009
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| 9 | CAPN3, LGMD2A
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| cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.
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| Duno M, Sveen ML, Schwartz M, Vissing J.
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| Eur J Hum Genet 16(8):935-40. Epub 2008 Mar 12.
2008
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| 10 | LGMD2A, LGMD2B
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| Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.
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| Fanin M, Nardetto L, Nascimbeni AC, Tasca E, Spinazzi M, Padoan R, Angelini C.
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| J Med Genet 44(10):609-14. Epub 2007 May 25. 2007
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| 11 | CAPN3, LGMD2A
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| Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
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| Kramerova I, Beckmann JS, Spencer MJ.
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| Biochim Biophys Acta 1772(2):128-44. Epub 2006 Jul 15. Review.
2007
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| 12 | CAPN3, LGMD2A
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| Screening of the CAPN3 gene in patients with possible LGMD2A.
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| Krahn M, Bernard R, Pecheux C, Hammouda el H, Eymard B, Lopez de Munain A, Cobo AM, Romero N, Urtizberea A, Leturcq F, Levy N; The Calpain Study Group of the French LGMD Network.
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| Clin Genet 69(5):444-9. No abstract available. 2006
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| 13 | LGMD2A, CAPN3
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| Novel mutations in the calpain 3 gene in Germany.
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| Todorova A, Kress W, Mueller C.
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| Clin Genet 67(4):356-8. No abstract available. 2005
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| 14 | NAO, EDS7C, HSCR5, HYP1, MADYS2, PYCD, PALS, ALPS2, LGMD2A, CASP8D, CYLD
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| The genetic and molecular bases of monogenic disorders affecting proteolytic systems.
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| Richard I.
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| J Med Genet 42(7):529-39. 2005
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| 15 | LGMD2A, CAPN3
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| Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway.
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| Kramerova I, Kudryashova E, Venkatraman G, Spencer MJ.
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| Hum Mol Genet 14(15):2125-34. Epub 2005 Jun 16. 2005
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| 16 | LGMD2A, CAPN3
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| Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
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| Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, Nascimbeni AC, Fulizio L, Broccolini A, Canki-Klain N, Comi LI, Nigro G, Angelini C, Nigro V.
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| J Med Genet 42(9):686-93. 2005
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| 17 | LGMD2A, CAPN3
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| Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3.
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| Jenne DE, Kley RA, Vorgerd M, Schroder JM, Weis J, Reimann H, Albrecht B, Nurnberg P, Thiele H, Muller CR, Meng G, Witt CC, Labeit S.
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| Biol Chem 386(1):61-7. 2005
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| 18 | CAPN3, LGMD2A
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| Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle.
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| Keira Y, Noguchi S, Minami N, Hayashi YK, Nishino I.
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| J Biochem (Tokyo) 133(5):659-64. 2003
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| 19 | LGMD2A
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| Calpainopathy-A survey of mutations and polymorphisms.
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| Richard I, et al.
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| Am J Hum Genet 64(6):1524-40. 1999
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| 20 | CAPN3, LGMD2A
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| Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population.
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| Chou FL, et al.
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| Neurology 52(5):1015-20. 1999
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| 21 | LGMD1B, CMD1F, LGMD2A, LGMD2B, LGMD2G, LGMD2H
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| The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms.
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| Bushby KM.
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| Hum Mol Genet 8(10 REVIEW ISSUE):1875-82 1999
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| 22 | CAPN3, LGMD2A
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| Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
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| Minami N, Nishino I, Kobayashi O, Ikezoe K, Goto Y, Nonaka I.
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| J Neurol Sci 171(1):31-7. 1999
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| 23 | CAPN3, LGMD2A
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| Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A.
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| Ono Y, et al.
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| J Biol Chem 273 : 17073-17078. 1998
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| 24 | CAPN3, LGMD2A
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| Limb girdle muscular dystrophy type 2A (CAPN3) : mapping using allelic association.
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| Lonjou C, Collins A, Beckmann J, Allamand V, Morton N.
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| Hum Hered 48 : 333-337. 1998
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| 25 | CAPN3, LGMD2A
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| Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.
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| Kawai H, et al.
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| Muscle Nerve 21 : 1493-1501. 1998
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| 26 | CAPN3, LGMD2A
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| Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.
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| Anderson LV, et al.
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| Am J Pathol 153 : 1169-1179. 1998
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| 27 | CAPN3, LGMD2A
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| Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
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| Richard I, Brenguier L, Dincer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS.
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| Am J Hum Genet 60(5):1128-38. 1997
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| 28 | LGMD2A
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| DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene.
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| Pratt VM, Jackson CE, Wallace DC, Gurley DS, Feit A, Feldman GL.
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| Am J Hum Genet 61(1):231-3. No abstract available. 1997
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| 29 | LGMD2A, LGMD2C, LGMD2D, LGMD2E, LGMD2F
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| The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies.
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| Vainzof M, et al.
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| Hum Mol Genet 5 : 1963-1969. 1996
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| 30 | CAPN3, LGMD2A
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| Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence.
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| Sorimachi H, et al.
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| J Biol Chem 270 : 31158-31162. 1995
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| 31 | LGMD2A
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| An STS map of the limb girdle muscular dystrophy type 2A region.
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| Richard I, Roudaut C, Fougerousse F, Chiannilkulchai N, Beckmann JS.
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| Mamm Genome 6(10):754-6. 1995
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| 32 | LGMD1A, LGMD2A, LGMD2B
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| Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus.
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| Allamand V, et al.
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| Hum Mol Genet 4 : 459-463. 1995
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| 33 | CAPN3, LGMD2A
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| Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A.
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| Richard I, et al.
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| Cell 81 : 27-40. 1995
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| 34 | B2M, CAPN3, LGMD2A, SORD, FDPSL4
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| A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.
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| Chiannilkulchai N, et al.
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| Hum Mol Genet 4 : 717-725. 1995
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| 35 | LGMD2A
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| Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a I-cM 15q15.1-q15.3 interval.
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| Allamand V, et al.
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| Am J Hum Genet 56 : 1417-1430. 1995
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| 36 | LGMD1A, LGMD2A, LGMD2B
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| Diagnostic criteria for the limb-girdle muscular dystrophies : report of the ENMC consortium on limb-girdle dystrophies.
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| Bakker E, et al.
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| Neuromuscul Disord 5 : 71-74. 1995
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| 37 | LGMD2A
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| Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.
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| Fougerousse F, et al.
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| Hum Mol Genet 3 : 285-293. 1994
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| 38 | LGMD2A
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| Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
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| Passos-Bueno MR, et al.
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| J Med Genet 30 : 385-387. 1993
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| 39 | LGMD2A, LGMD2C, LGMD2D
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| Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families.
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| Passos-Bueno MR, et al.
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| Hum Mol Genet 2 : 201-202. 1993
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| 40 | LGMD2A
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| Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15.
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| Young K, et al.
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| Genomics 13 : 1370-1371. 1992
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| 41 | LGMD2A
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| A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage.
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| Beckmann JS, et al.
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| C R Acad Sci III III : 141-148. 1991
|