| 1 | LGMD2S, TRAPPC11
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| Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
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| Milev MP, Stanga D, Schänzer A, Nascimento A, Saint-Dic D, Ortez C, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M, Jimenez-Mallebrera C.
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| Sci Rep. Oct 1;9(1):14036. doi: 10.1038/s41598-019-50415-6 2019
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| 2 | EPM6A, GOSR2, LGMD2S, TRAPPC11
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| TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
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| Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA.
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| Skelet Muscle. May 31;8(1):17. doi: 10.1186/s13395-018-0163-0. 2018
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| 3 | LGMD2S, TRAPPC11
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| Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy.
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| Wang X, Wu Y, Cui Y, Wang N, Folkersen L, Wang Y.
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| Case Rep Genet. Jul 16;2018:8090797. doi: 10.1155/2018/8090797. eCollection 2018 2018
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| 4 | LGMD2S, TRAPPC11
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| A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
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| Koehler K, Milev MP, Prematilake K, Reschke F, Kutzner S, Jühlen R, Landgraf D, Utine E, Hazan F, Diniz G, Schuelke M, Huebner A, Sacher M.
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| J Med Genet. Mar;54(3):176-185. doi: 10.1136/jmedgenet-2016-104108. Epub 2016 Oct 5. 2017
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| 5 | LGMD2S, TRAPPC11
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| Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
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| Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE.
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| Am J Hum Genet 93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3.
2013
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