| 1 | BBS11, LGMD2H, TRIM32
|
| The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.
|
| Kudryashova E, Struyk A, Mokhonova E, Cannon SC, Spencer MJ.
|
| Hum Mol Genet 20(20):3925-32. doi: 10.1093/hmg/ddr311. Epub 2011 Jul 20.
2011
|
| 2 | BBS11, DBNDD1, LGMD2H, TRIM32
|
| TRIM32 is an E3 ubiquitin ligase for dysbindin.
|
| Locke M, Tinsley CL, Benson MA, Blake DJ.
|
| Hum Mol Genet 18(13):2344-58. Epub 2009 Apr 6. 2009
|
| 3 | LGMD2H, TRIM32
|
| Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.
|
| Kudryashova E, Wu J, Havton LA, Spencer MJ.
|
| Hum Mol Genet 18(7):1353-67. Epub 2009 Jan 19.
2009
|
| 4 | TRIM32, LGMD2H
|
| Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.
|
| Saccone V, Palmieri M, Passamano L, Piluso G, Meroni G, Politano L, Nigro V.
|
| Hum Mutat 29(2):240-7. 2008
|
| 5 | LGMD2H, LGMD2I
|
| Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.
|
| Frosk P, Del Bigio MR, Wrogemann K, Greenberg CR.
|
| Eur J Hum Genet 13(8):978-82. 2005
|
| 6 | LGMD2H, TRIM32
|
| Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.
|
| Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K.
|
| Am J Hum Genet 70(3):663-72. 2002
|
| 7 | LGMD1B, 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
|
| 8 | LGMD2H
|
| A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33 : evidence for another limb-girdle muscular dystrophy locus.
|
| Weiler T, et al.
|
| Am J Hum Genet 63 : 140-147. 1998
|
| 9 | LGMD2H
|
| A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.
|
| Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ,Fujiwara TM, Morgan K, Wrogemann K.
|
| Am J Hum Genet 63(1):140-7. 1998
|