| 1 | LGMD1A,MYOT,MYTP
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| Myotilinopathy: refining the clinical and myopathological phenotype.
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| Olive M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I.
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| Brain 128(Pt 10):2315-26. Epub 2005 Jun 9. 2005
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| 2 | MYOT, LGMD1A, MYTP
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| Mutations in myotilin cause myofibrillar myopathy.
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| Selcen D, Engel AG.
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| Neurology 62(8):1363-71. Erratum in: Neurology. 2004 Jul 27;63(2):405. 2004
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| 3 | LGMD1A, MYOT
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| Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.
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| Salmikangas P, van der Ven PF, Lalowski M, Taivainen A, Zhao F, Suila H, Schroder R, Lappalainen P, Furst DO, Carpen O.
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| Hum Mol Genet 12(2):189-203. 2003
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| 4 | LGMD1A, MYOT
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| Myotilin is mutated in limb girdle muscular dystrophy 1A.
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| Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC.
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| Hum Mol Genet 9(14):2141-7. 2000
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| 5 | LGMD1A
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| Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy.
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| Speer MC, et al.
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| J Med Genet 35 : 305-308. 1998
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| 6 | LGMD1A
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| Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31.
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| Bartoloni L, Horrigan SK, Viles KD, Gilchrist JM, Stajich JM, Vance JM,Yamaoka LH, Pericak-Vance MA, Westbrook CA, Speer MC.
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| Genomics 54(2):250-5. 1998
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| 7 | LGMD1A, D5S594
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| Limb-Girdle muscular dystrophy 1A : refinement of the 5q31 localization and a physical and genetic map of the interval. (abstr)
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| Bartoloni L, et al.
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| Am J Hum Genet 61 : A267. 1997
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| 8 | LGMD1A, LGMD1D
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| Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.
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| Speer MC, Gilchrist JM, Chutkow JG, McMichael R, Westbrook CA, Stajich JM, Jorgenson EM, Gaskell PC, Rosi BL, Ramesar R, et al.
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| Am J Hum Genet 57 : 1371-1376. 1995
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| 9 | 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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| 10 | 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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| 11 | LGMD1A
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| Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.
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| Yamaoka LH, et al.
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| Neuromuscul Disord 4 : 471-475. 1994
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| 12 | LGMD1A
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| Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy : linkage of an autosomal dominant form to chromosome 5q.
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| Speer MC, et al.
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| Am J Hum Genet 50 : 1211-1217. 1992
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| 13 | LGMD1A
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| Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q.
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| Speer MC, Yamaoka LH, Gilchrist JH, Gaskell CP, Stajich JM, Vance JM,Kazantsev A, Lastra AA, Haynes CS, Beckmann JS, et al.
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| Am J Hum Genet 50(6):1211-7. 1992
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| 14 | LGMD1A, TCOF1, TCS
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| The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
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| Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R.
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| Am J Hum Genet 49(1):17-22. 1991
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