Screening for late onset Pompe disease – Single center experience von Kostera-Pruszczyk, A, Potulska-Chromik, A, Lusakowska, A, Macias, A, Ryniewicz, B, Nowakowska-Jastrzębska, A, Jastrzebski, M, Kaminska, A

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G.P.96 The point mutations spectrum of survival motor neuron gene 1 ( SMN1 ) in Polish SMA patients lacking a homozygous SMN1 deletion von Jedrzejowska, M, Gos, M, Zimowski, J, Kostera-Pruszczyk, A, Ryniewicz, B, Hausmanowa-Petrusewicz, I

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Lambert–Eaton myasthenic syndrome in childhood von Kostera-Pruszczyk, A, Ryniewicz, B, Rowinska-Marcinska, K, Dutkiewicz, M, Kamińska, A

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Myotonic syndromes: one gene – different phenotypes von Ryniewicz, B, Kostera-Pruszczyk, A, Kwieciński, H

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E-POSTERS – NEUROPATHIES / ALS – CASE REPORTS von Fraczek, A., Potulska-Chromik, A., Bednarska-Makaruk, M., Sulek, A., Obersztyn, E., Braun-Walicka, N., Ryniewicz, B., Kostera-Pruszczyk, A.

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MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2 von Verhoeven, Kristien, Claeys, Kristl G., Züchner, Stephan, Schröder, J. Michael, Weis, Joachim, Ceuterick, Chantal, Jordanova, Albena, Nelis, Eva, De Vriendt, Els, Van Hul, Matthias, Seeman, Pavel, Mazanec, Radim, Saifi, Gulam Mustafa, Szigeti, Kinga, Mancias, Pedro, Butler, Ian J., Kochanski, Andrzej, Ryniewicz, Barbara, De Bleecker, Jan, Van den Bergh, Peter, Verellen, Christine, Van Coster, Rudy, Goemans, Nathalie, Auer-Grumbach, Michaela, Robberecht, Wim, Milic Rasic, Vedrana, Nevo, Yoram, Tournev, Ivajlo, Guergueltcheva, Velina, Roelens, Filip, Vieregge, Peter, Vinci, Paolo, Moreno, Maria Teresa, Christen, H.-J., Shy, Michael E., Lupski, James R., Vance, Jeffery M., De Jonghe, Peter, Timmerman, Vincent

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A novel MPZ gene mutation in congenital neuropathy with hypomyelination von KOCHANSKI, A, DRAC, H, KABZINSKA, D, RYNIEWICZ, B, ROWINSKA-MARCINSKA, K, NOWAKOWSKI, A, HAUSMANOWA-PETRUSEWICZ, I

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IBM-type inclusions in a patient with slow-channel syndrome caused by a mutation in the AChR epsilon subunit von Fidzianska, Anna, Ryniewicz, B., Shen, Xing-Ming, Engel, Andrew G.

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Congenital Myopathy with Tubular Aggregates and Tubulofilamentous IBM-Type Inclusions von Fidziańska, A., Kamińska, A., Ryniewicz, B.

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P.59 - Screening for late onset Pompe disease – Single center experience von Kostera-Pruszczyk, A., Potulska-Chromik, A., Lusakowska, A., Macias, A., Ryniewicz, B., Nowakowska-Jastrzębska, A., Jastrzebski, M., Kaminska, A.

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Duchenne muscular dystrophy (DMD) in a girl with balanced translocation (X;3)(p21.1;p13) and psychomotor delay von Obersztyn, E, Szczaluba, K, Smyk, M, Ryniewicz, B, Fidzianska, A, Nowakowska, B, Stankiewicz, P, Bocian, E, Mazurczak, T

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Carpal tunnel syndrome in children – we need to find out what caused it von Lipowska, M, Rowińska-Marcińska, K, Ryniewicz, B, Gola, M, Olszewicz-Dukaczewska, M, Domitrz, I, Kostera-Pruszczyk, A

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Electrophysiological criteria separate childhood CIDP from HNPP von Gaweł, M, Ryniewicz, B, Rowińska-Marcińska, K, Kochański, A, Szmidt-Sałkowska, E, Kostera-Pruszczyk, A

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Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3′-Splice Site and Ser130Cys Mutation in the GDAP1 Gene von Kabzińska, D., Kochański, A., Drac, H., Ryniewicz, B., Rowińska-Marcińska, K., Hausmanowa-Petrusewicz, I.

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Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci von KOCHANSKI, A, KENNERSON, M, KAWULAK, M, RYNIEWICZ, B, ROWINSKA-MARCINSKA, K, WALIZADA, G, NOWAKOWSKI, A, HAUSMANOWA-PETRUSEWICZ, I, NICHOLSON, G. A

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E-POSTERS – NEUROPATHIES / ALS – CASE REPORTS: EP.104Spinal muscular atrophy overlapping syndrome – "double trouble" or a chance for better outcome? von Fraczek, A., Potulska-Chromik, A., Bednarska-Makaruk, M., Sulek, A., Obersztyn, E., Braun-Walicka, N., Ryniewicz, B., Kostera-Pruszczyk, A.

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C.P.4.13 A RYR1 -linked dominant core myopathy presenting with predominant distal involvement (foot drop): Clinical and morphological variability von Ryniewicz-Job, B, Nadaj-Pakleza, A, Beuvin, M, Monnier, N, Ferreiro, A, Kaminska, A

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A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease von Kochanski, Andrzej, Lofgren, Ann, Jedrzejowska, Hanna, Ryniewicz, Barbara, Czarny-Ratajczak, Malwina, Barciszewska, Anna-Maria, Samocko, Joanna, Hausmanowa-Petrusewicz, Irena, Jonghe, Peter De, Timmerman, Vincent, Latos-Bielenska, Anna

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A new familial congenital myopathy in children with desmin and dystrophin reacting plaques von Fidziańska, A., Ryniewicz, B., Barcikowska, M., Goebel, H.H.

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Mutation Screening of Charcot-Marie-Tooth Patients in Poland von KOCHAŃSKI, A., TIMMERMAN, V., JEDRZEJOWSKA, H., RYNIEWICZ, B., LÖFGREN, A., De VRIENDT, E., VAN BROECKHOVEN, C., LATOS-BIELEŃSKA, A., HAUSMANOWA-PETRUSEWICZ, I.

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