1 | DYSF, LGMD2B
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| Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B.
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| 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.
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| J Neurol Neurosurg Psychiatry Neurol Neurosurg Psychiatry. 2012 Dec 20. [Epub ahead of print]
2012
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2 | DYSF, LGMD2B
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| Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
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| Cacciottolo M, Numitone G, Aurino S, Caserta IR, Fanin M, Politano L, Minetti C, Ricci E, Piluso G, Angelini C, Nigro V.
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| Eur J Hum Genet 19(9):974-80. doi: 10.1038/ejhg.2011.70. Epub 2011 Apr 27.
2011
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3 | DYSF, LGMD2B
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| Translational research and therapeutic perspectives in dysferlinopathies.
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| Barthélémy F, Wein N, Krahn M, Lévy N, Bartoli M.
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| Mol Med 17(9-10):875-82. doi: 10.2119/molmed.2011.00084. Epub 2011 May 6. Review.
2011
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4 | DYSF, LGMD2B
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| Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.
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| 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.
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| J Hum Genet 55(8):546-9. Epub 2010 Jun 10.PMID: 20535123 2010
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5 | DMAT, DYSF, LGMD2B, MMD1
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| Analysis of the DYSF mutational spectrum in a large cohort of patients.
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| 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.
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| Hum Mutat um Mutat. 2009 2009
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6 | 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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7 | DMAT, DYSF, LGMD2B, MMD1
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| Distal anterior compartment myopathy with early ankle contractures.
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| Saito H, Suzuki N, Ishiguro H, Hirota K, Itoyama Y, Takahashi T, Aoki M.
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| Muscle Nerve 36(4):525-7.PMID: 17614318 2007
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8 | LGMD2B, DYSF
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| Lariat branch point mutation in the dysferlin gene with mild limb-girdle muscular dystrophy.
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| Sinnreich M, Therrien C, Karpati G.
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| Neurology 66(7):1114-6. 2006
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9 | LGMD2B, LGMD2E
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| Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.
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| Fanin M, Nascimbeni AC, Angelini C.
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| Neuromuscul Disord 16(11):792-9. Epub 2006 Aug 23.
2006
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10 | DYSF, LGMD2B, MMD1
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| Defective membrane repair in dysferlin-deficient muscular dystrophy.
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| Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP.
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| Nature 423(6936):168-72. 2003
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11 | DYSF, LGMD2B, MMD1
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| Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.
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| Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK.
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| J Neurol Sci 211(1-2):23-8. 2003
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12 | DYSF, LGMD2B
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| Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype.
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| Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH.
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| Ann Neurol 49(1):130-4. 2001
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13 | DYSF, LGMD2B
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| Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation.
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| McNally EM, Ly CT, Rosenmann H, Mitrani Rosenbaum S, Jiang W, Anderson LV, Soffer D, Argov Z.
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| Am J Med Genet 91(4):305-12. 2000
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14 | DYSF, LGMD2B, MMD1
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| Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi Myopathy suggests a role for modifier gene.
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| Weiler T, et al.
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| Hum Mol Genet 8(5):871-7. 1999
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15 | DYSF, LGMD2B
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| Dysferlin deletion in SJL mice (SJL-dysf) defines a natural model for limb girdle muscular dystrophy 2B.
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| Bittner RE, et al.
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| Nat Genet 23(2):141-2. No abstract available 1999
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16 | 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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17 | DYSF, LGMD2B, MMD1
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| Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13.
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| Liu J, et al.
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| Genomics 49 : 23-29. 1998
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18 | DYSF, LGMD2B
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| A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B.
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| Bashir R, et al.
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| Nat Genet 20 : 37-42. 1998
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19 | DYSF, LGMD2B, MMD1
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| Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
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| Liu J, et al.
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| Nat Genet 20 : 31-36. 1998
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20 | LGMD2B, MEIS1, MDH1, RAB1A, REL, OTX1, D2S357, D2S2701, D2S337, D2S1745, D2S2090
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| 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.
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| Resch K, et al.
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| Mamm Genome 9 : 893-898. 1998
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21 | DCTN1, LGMD2B
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| Integrated radiation hybrid map of human chromosome 2p13: possible involvement of dynactin in neuromuscular diseases.
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| Korthaus D, Wedemeyer N, Lengeling A, Ronsiek M, Jockusch H, Schmitt-John T.
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| Genomics 43(2):242-4. 1997
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22 | RAB1A, LGMD2B
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| 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.
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| Wedemeyer N, et al.
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| Genomics 32 : 447-454. 1996
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23 | LGMD2B
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| Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p.
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| Bashir R, et al.
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| Genomics 33 : 46-52. 1996
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24 | LGMD2B, MMD1
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| Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.
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| Weiler T, et al.
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| Am J Hum Genet 59 : 872-878. 1996
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25 | EMD, LGMD2B
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| Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.
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| 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.
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| Brain 119 ( Pt 6):1895-909. 1996
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26 | 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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27 | LGMD2B
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| 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.
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| Passos-Bueno MR, et al.
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| Genomics 27 : 192-195. 1995
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28 | DYSF, LGMD2B, MMD1
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| Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14.
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| Bejaoui K, et al.
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| Neurology 45 : 768-772. 1995
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29 | 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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30 | LGMD2B
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| A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p.
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| Bashir R, et al.
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| Hum Mol Genet 3 : 455-457. 1994
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31 | LGMD2B
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| 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)
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| Passos-Bueno MR, et al.
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| Am J Hum Genet 55 : A199. 1994
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