Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency von Pane, M, Messina, S, Vasco, G, Foley, A.R, Morandi, L, Pegoraro, E, Mongini, T, D’Amico, A, Bianco, F, Lombardo, M.E, Scalise, R, Bruno, C, Berardinelli, A, Pini, A, Moroni, I, Mora, M, Toscano, A, Moggio, M, Comi, G, Santorelli, F.M, Bertini, E, Muntoni, F, Mercuri, E

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Flow cytometry analysis: A quantitative method for collagen VI deficiency screening von Kim, J, Jimenez-Mallebrera, C, Foley, A.R, Fernandez-Fuente, M, Brown, S.C, Torelli, S, Feng, L, Sewry, C.A, Muntoni, F

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G.P.248 von Foley, A.R, Coman, C, Tobin, A, Kehoe, N, Shinners, B, Timothy, A, McGrath, M, Goode, M, Lynch, B

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STAC3 p.Trp284Ser associated with congenital myopathy with distinctive dysmorphic features and malignant hyperthermia von Zaharieva, I, Sarkozy, A, Manzur, A, Munot, P, O’Grady, G, Rendu, J, Amthor, H, Servais, L, Malfatti, E, Dixon, J, Poke, G, Donkervoort, S, Foley, A.R, Neto, O.L.A, Davis, M.R, Urtizberea, J.A, Bastaki, L, Romero, N.B, Oates, E.C, Holmes, C, Williams, G, Sframeli, M, Yum, S, Medne, L, Roy, S.Q, Fauré, J, Feng, L, Morgan, J.E, Bönnemann, C.G, Phadke, R, Sewry, C.A, Treves, S, Muntoni, F

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G.P.17 Getting to the core of the matter: Cores as a common muscle pathology finding in the collagen VI-related myopathies von Foley, A.R, Phadke, R, Feng, L, Sewry, C.A, Muntoni, F

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P78 Getting to the core of the matter: cores as a common muscle pathology finding in the collagen VI-related myopathies von Foley, A.R, Phadke, R, Feng, L, Sewry, C.A, Muntoni, F

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P.3.10 An unusual double trouble of coexisting distal myopathy and distal motor neuropathy uncovered by exome sequencing von Scoto, M, Cirak, S, Whyte, T, Foley, A.R, Pitt, M, Polke, J, Hurles, M.E, Manzur, A.Y, Reilly, M.M, Muntoni, F

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G.P.22 Possible mutation dependent mechanisms for intra-familial variation of severity in Collagen VI-Related Myopathies (COL6-RM) von Donkervoort, S, Hu, Y, Dastgir, J, Meilleur, K, Zou, Y, Foley, A.R, Harper, A, Bonnemann, C.G

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G.P.34 von Chauveau, C, Bönnemann, C.G, Julien, C, Kho, A.L, Marks, H, Talim, B, Maury, P, Uro-Coste, E, Alexandrovich, A, Vihola, A, Foley, A.R, Santi, M, Udd, B, Topaloglu, H, Moore, S.A, Gotthardt, M, Samuels, M.E, Gautel, M, Ferreiro, A

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P.6.7 Wide phenotypic spectrum of SMA with lower limbs predominance due to mutations in the tail domain of DYNC1H1 gene: A case series von Scoto, M, Rossor, A, Harms, M.B, Calissano, M, Cirak, S, Foley, A.R, Sewry, C, Hafezparast, M, Robb, S, Manzur, A.Y, Baloh, R.H, Reilly, M.M, Muntoni, F

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P.1.2 Natural history of pulmonary function in collagen VI-related myopathies: An international study von Foley, A.R, Quijano-Roy, S, Collins, J, Straub, V, McCallum, M, Deconinck, N, Mercuri, E, Pane, M, D’Amico, A, Bertini, E, North, K, Ryan, M.M, Auh, S, Muntoni, F, Bönnemann, C.G

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G.P.214 von Hu, Y, Donkervoot, S, Stojkovic, T, Voermans, N, Foley, A.R, Leach, M, Dastgir, J, Bolduc, V, Cullup, T, Becdelièvre, A, Yang, L, Su, H, Meilleur, K, Schindler, A, Kamsteeg, E, Richard, P, Butterfield, R, Winder, T, Crawford, T, Weiss, R, Muntoni, F, Allamand, V, Bönnemann, C

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T.P.42 von Meilleur, K.M, Jain, M.S, Hynan, L.S, Shieh, C.Y, Kim, E, Waite, M, McGuire, M, Fiorini, C, Glanzman, A, Main, M, Rose, K, Duong, T, Linton, M.M, Arveson, I.C, Nichols, C, Yang, K, Smith, M, Donkervoort, S, Leach, M.E, Foley, A.R, Collins, J, Muntoni, F, Rutkowski, A, Bönnemann, C.G

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EM.P.4.06 Autosomal recessive inheritance of classic Bethlem myopathy von Foley, A.R, Shoffner, J, Weiss, R, Bonnemann, C.G

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G.P.1 Validation of novel secondary dystroglycanopathy genes using biochemical, cellular and zebrafish studies von Stevens, E, Carss, K, Cirak, S, Torelli, S, Foley, A.R, Sewry, C, Topaloglu, H, Haliloglu, G, Stemple, D, Hurles, M, Lin, Y.Y, Muntoni, F

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S.P.23 Percent predicted forced vital capacity is a viable outcome measure in Laminin alpha 2 – Deficient congenital muscular dystrophy von Collins, J, Vandyke, R, Fenchel, M, McCallum, M, Volker, S, Foley, A.R, Muntoni, F, Stehling, F, Schara, U, Rutkowski, A, Deconinck, N, Sawnani, H, Bonnemann, C.G, Amin, R

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P48 Genetic and functional investigation of Brown-Vialetto-Van Laere syndrome and related neuropathies von Pandraud, A, Johnson, J.O, Singleton, A.B, Clayton, P, Land, J, Hargreaves, I, Foley, A.R, Muntoni, F, Reilly, M.M, Houlden, H

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P65 Whole genome analysis in a family with dominant muscle disease von Pitceathly, R.D.S, He, J, Foley, A.R, Muntoni, F, Pearson, N, Hanna, M.G

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P24 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalling von Sharpe, J.A, Logan, C.V, Szabadkai, G, Parry, D.A, Torelli, S, Childs, A.-M, Kriek, M, Phadke, R, Johnson, C.A, Roberts, N.Y, Bonthron, D.T, Pysden, K.A, Whyte, T, Munteanu, I, Foley, A.R, Wheway, G, Szymanska, K, Natarajan, S, Abdelhamed, Z.A, Morgan, J.E, Roper, H, Santen, G.W.E, Niks, E.H, van der Pol, W.L, Lindhout, D, Raffaello, A, De Stefani, D, den Dunnen, J.T, Sun, Y, Ginjaar, I, Sewry, C.A, Hurles, M, Rizzuto, R, Duchen, M.R, Muntoni, F, Sheridan, E

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O03 High-dose riboflavin therapy in Brown-Vialetto-Van Laere syndrome: clinical and biochemical improvement von Foley, A.R, Broomfield, A.A, Pandraud, A, Johnson, J.O, Singleton, A.B, Hargreaves, I.P, Land, J.M, Grunewald, S, Rahman, S, Clayton, P, Houlden, H, Reilly, M.M, Muntoni, F

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