| 1 | CMSTA1, GFPT1
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| Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation
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| Jiang K, Zheng Y, Lin J, Wu X, Yu Y, Zhu M, Fang X, Zhou M, Li X, Hong D.
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| Brain Behav. Jan 3:e2469. doi: 10.1002/brb3.2469. Epub ahead of print. PMID: 2022
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| 2 | CMSTA1, GFPT1
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| Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles.
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| Ma Y, Xiong T, Lei G, Ding J, Yang R, Li Z, Guo J, Shen D.
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| Neurol Sci. Aug;42(8):3485-3490. doi: 10.1007/s10072-020-05021-0. Epub 2021 Jan 13. 2021
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| 3 | CMSTA1, GFPT1
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| Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
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| Zoltowska K, Webster R, Finlayson S, Maxwell S, Cossins J, Müller J, Lochmüller H, Beeson D.
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| Hum Mol Genet. Jul 15;22(14):2905-13. doi: 10.1093/hmg/ddt145. Epub 2013 Apr 8. 2013
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| 4 | CMSTA1, CMSTA2, DPAGT1, GFPT1
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| Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates.
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| Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D.
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| Am J Hum Genet 91(1):193-201. Epub 2012 Jun 27.
2012
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| 5 | CMSTA1
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| Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
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| Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H.
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| Am J Hum Genet 88(2):162-72.
2011
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| 6 | CMSTA1, CMSTA2
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| Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'.
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| Slater CR, Fawcett PR, Walls TJ, Lyons PR, Bailey SJ, Beeson D, Young C, Gardner-Medwin D.
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| Brain 129(Pt 8):2061-76. 2006
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