| 1 | MDDGC3, POMGNT1
|
| Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
|
| Raducu M, Baets J, Fano O, Van Coster R, Cruces J.
|
| Eur J Hum Genet 20(9):945-52. doi: 10.1038/ejhg.2012.40. Epub 2012 Mar 14.
2012
|
| 2 | MDDGC3, POMGNT1
|
| Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O.
|
| Raducu M, Baets J, Fano O, Van Coster R, Cruces J.
|
| Eur J Hum Genet 20(9):945-52. doi: 10.1038/ejhg.2012.40.
2012
|
| 3 | LGMD2N, MDDGB3, MDDGC3, POMGNT1, POMT2
|
| Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
|
| Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E.
|
| Neurology 72(21):1802-9. Epub 2009 Mar 18.PMID: 19299310 2009
|
| 4 | MDDGB3, MDDGC3, POMGNT1
|
| Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.
|
| Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F.
|
| Ann Neurol 64(5):573-82.
2008
|
| 5 | MDDGB3, MDDGC3, POMGNT1
|
| Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.
|
| Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F.
|
| Arch Neurol 65(1):137-41.
2008
|