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Clarke, NF, Domazetovska, A, Waddell, L, Kornberg, A, McLean, C, North, KN. Cap disease due to mutation of the beta-tropomyosin gene (TPM2).
Neuromuscular Disorders
19(5)
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348 -351
2009
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Clarke, NF, Waddell, LB, Sie, LTL, van Bon, BWM, McLean, C, Clark, D, Kornberg, A, Lammens, M, North, KN. Mutations in TPM2 and congenital fibre type disproportion.
Neuromuscular Disorders
22(11)
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955 -958
2012
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Clarke, NF, Waddell, LB, Cooper, ST, Perry, M, Smith, RLL, Kornberg, AJ, Muntoni, F, Lillis, S, Straub, V, Bushby, K, et al. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
Human Mutation
31(7)
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e1544 -e1550
2010
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Yiu, EM, Klausegger, A, Waddell, LB, Grasern, N, Lloyd, L, Tran, K, North, KN, Bauer, JW, McKelvie, P, Chow, CW, et al. Epidermolysis bullosa with late‐onset muscular dystrophy and plectin deficiency.
Muscle & Nerve
44(1)
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135 -141
2011
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Clarke, NF, Kidson, W, Quijano‐Roy, S, Estournet, B, Ferreiro, A, Guicheney, P, Manson, JI, Kornberg, AJ, Shield, LK, North, KN. SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance.
Annals of Neurology
59(3)
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546 -552
2005
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