Citations for
1DYSF, LGMD2B
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
Takahashi T, Aoki M, Suzuki N, Tateyama M, Yaginuma C, Sato H, Hayasaka M, Sugawara H, Ito M, Abe-Kondo E, Shimakura N, Ibi T, Kuru S, Wakayama T, Sobue G, Fujii N, Saito T, Matsumura T, Funakawa I, Mukai E, Kawanami T, Morita M, Yamazaki M, Hasegawa T, Shimizu J, Tsuji S, Kuzuhara S, Tanaka H, Yoshioka M, Konno H, Onodera H, Itoyama Y.
J Neurol Neurosurg Psychiatry Neurol Neurosurg Psychiatry. 2012 Dec 20. [Epub ahead of print] 2012
2DYSF, LGMD2B
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V.
Eur J Hum Genet 19(9):974-80. doi: 10.1038/ejhg.2011.70. Epub 2011 Apr 27. 2011
3DYSF, LGMD2B
Translational research and therapeutic perspectives in dysferlinopathies.
Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M.
Mol Med 17(9-10):875-82. doi: 10.2119/molmed.2011.00084. Epub 2011 May 6. Review. 2011
4DYSF, LGMD2B
Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.
Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrão L, Guimarães A, Bronze-da-Rocha E.
J Hum Genet 55(8):546-9. Epub 2010 Jun 10.PMID: 20535123 2010
5DMAT, DYSF, LGMD2B, MMD1
Analysis of the DYSF mutational spectrum in a large cohort of patients.
Krahn M, Béroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforêt P, Urtizberea JA, Eymard B, Leturcq F, Lévy N.
Hum Mutat um Mutat. 2009 2009
6LGMD2A, LGMD2B
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.
Fanin M, Nardetto L, Nascimbeni AC, Tasca E, Spinazzi M, Padoan R, Angelini C.
J Med Genet 44(10):609-14. Epub 2007 May 25. 2007
7DMAT, DYSF, LGMD2B, MMD1
Distal anterior compartment myopathy with early ankle contractures.
Saito H, Suzuki N, Ishiguro H, Hirota K, Itoyama Y, Takahashi T, Aoki M.
Muscle Nerve 36(4):525-7.PMID: 17614318 2007
8LGMD2B, DYSF
Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy.
Sinnreich M, Therrien C, Karpati G.
Neurology 66(7):1114-6. 2006
9LGMD2B, LGMD2E
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.
Fanin M, Nascimbeni AC, Angelini C.
Neuromuscul Disord 16(11):792-9. Epub 2006 Aug 23. 2006
10DYSF, LGMD2B, MMD1
Defective membrane repair in dysferlin-deficient muscular dystrophy.
Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP.
Nature 423(6936):168-72. 2003
11DYSF, LGMD2B, MMD1
Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.
Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK.
J Neurol Sci 211(1-2):23-8. 2003
12DYSF, LGMD2B
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH.
Ann Neurol 49(1):130-4. 2001
13DYSF, LGMD2B
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.
McNally EM, Ly CT, Rosenmann H, Mitrani Rosenbaum S, Jiang W, Anderson LV, Soffer D, Argov Z.
Am J Med Genet 91(4):305-12. 2000
14DYSF, LGMD2B, MMD1
Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi Myopathy suggests a role for modifier gene.
Weiler T, et al.
Hum Mol Genet 8(5):871-7. 1999
15DYSF, LGMD2B
Dysferlin deletion in SJL mice (SJL-dysf) defines a natural model for limb girdle muscular dystrophy 2B.
Bittner RE, et al.
Nat Genet 23(2):141-2. No abstract available 1999
16LGMD1B, CMD1F, LGMD2A, LGMD2B, LGMD2G, LGMD2H
The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms.
Bushby KM.
Hum Mol Genet 8(10 REVIEW ISSUE):1875-82 1999
17DYSF, LGMD2B, MMD1
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13.
Liu J, et al.
Genomics 49 : 23-29. 1998
18DYSF, LGMD2B
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
Bashir R, et al.
Nat Genet 20 : 37-42. 1998
19DYSF, LGMD2B, MMD1
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Liu J, et al.
Nat Genet 20 : 31-36. 1998
20LGMD2B, MEIS1, MDH1, RAB1A, REL, OTX1, D2S357, D2S2701, D2S337, D2S1745, D2S2090
Homology between human chromosome 2p13.3 and the wobbler critical region on mouse chromosome 11 : comparative high-resolution mapping of STS and EST loci on YAC/BAC contigs.
Resch K, et al.
Mamm Genome 9 : 893-898. 1998
21DCTN1, LGMD2B
Integrated radiation hybrid map of human chromosome 2p13: possible involvement of dynactin in neuromuscular diseases.
Korthaus D, Wedemeyer N, Lengeling A, Ronsiek M, Jockusch H, Schmitt-John T.
Genomics 43(2):242-4. 1997
22RAB1A, LGMD2B
YAC contigs of the Rab1 and wobbler (wr) spinal muscular atrophy gene region on proximal mouse chromosome 11 and of the homologous region on human chromosome 2p.
Wedemeyer N, et al.
Genomics 32 : 447-454. 1996
23LGMD2B
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p.
Bashir R, et al.
Genomics 33 : 46-52. 1996
24LGMD2B, MMD1
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
Weiler T, et al.
Am J Hum Genet 59 : 872-878. 1996
25EMD, LGMD2B
Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.
Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, Lozhnikova SM, Sukhorukov VS, Limborska SA, Slominsky PA, Bulayeva KB, Tsuji S.
Brain 119 ( Pt 6):1895-909. 1996
26LGMD1A, LGMD2A, LGMD2B
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus.
Allamand V, et al.
Hum Mol Genet 4 : 459-463. 1995
27LGMD2B
Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region.
Passos-Bueno MR, et al.
Genomics 27 : 192-195. 1995
28DYSF, LGMD2B, MMD1
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14.
Bejaoui K, et al.
Neurology 45 : 768-772. 1995
29LGMD1A, LGMD2A, LGMD2B
Diagnostic criteria for the limb-girdle muscular dystrophies : report of the ENMC consortium on limb-girdle dystrophies.
Bakker E, et al.
Neuromuscul Disord 5 : 71-74. 1995
30LGMD2B
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.
Bashir R, et al.
Hum Mol Genet 3 : 455-457. 1994
31LGMD2B
Confirmation of a third locus, AT 2p, for autosomal recessive limb-girdle muscular dystrophy indicates that at least 4 genes are responsible for this condition. (abstr)
Passos-Bueno MR, et al.
Am J Hum Genet 55 : A199. 1994