| 1 | CMSTA2, DPAGT1
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| Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.
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| Basiri K, Belaya K, Liu WW, Maxwell S, Sedghi M, Beeson D.
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| Neuromuscul Disord 23(6):469-72. doi: 10.1016/j.nmd.2013.03.003. Epub 2013 Apr 13.
2013
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| 2 | CMSTA2, DPAGT1
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| Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
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| Finlayson S, Palace J, Belaya K, Walls TJ, Norwood F, Burke G, Holton JL, Pascual-Pascual SI, Cossins J, Beeson D.
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| J Neurol Neurosurg Psychiatry 84(10):1119-25. doi: 10.1136/jnnp-2012-304716. Epub 2013 Feb 27.
2013
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| 3 | 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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| 4 | CMSTA2, DPAGT1
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| Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
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| Belaya K, Finlayson S, Cossins J, Liu WW, Maxwell S, Palace J, Beeson D.
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| Ann N Y Acad Sci 1275:29-35. doi: 10.1111/j.1749-6632.2012.06790.x.
2012
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| 5 | 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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