DOI : 10.1055/s-00000041

Neuropediatrics

Issue 02 · Volume 41 · August 2010 DOI: 10.1055/s-002-21261


Abstracts of the 36th Annual Meeting of the Society of Neuropediatrics
Mannheim, 22.–25. September 2010

Chair: Prof. Dr. med. Ingeborg Krägeloh-Mann, Tübingen
Abstracts (HTML) List of Authors
P1307
Thiels, C; Köhler, C; Weigt-Usinger, K; Weitkämper, A; Horváth, R; Lücke, T: BARTH SYNDROME with a new mutation without cardial involvement
P1308
Storm van's Gravesande, K; Linder-Lucht, M; Köhler, U; Korinthenberg, R; Omran, H: Application of Array-based Comparative Genome Hybridization in patients with mental retardation
P1309
Stettner, GM; Auber, B; Shoukier, M; Höger, C; Brockmann, K: FMR2 gene deletion as a cause of non-specific mental retardation and autistic behavior in two brothers
P1310
Laufs, M; König, R; Geb, S; Vlaho, S; Kieslich, M: De novo deletion 17p13.1 and duplication 17p11.2 in a seven months-old male infant with the clinical features of Potocki-Lupski syndrome
P1311
Kotzaeridou, U; Gerstner, T; Ebinger, F; Bauer, MF: Novel Missence Mutation in the BCS1L Gene as a Cause of mitochondrial encephalopathy with Fanconi Syndrome
P1312
Della Marina, A; Munteanu, M; Holinski-Feder, E; Möller-Hartmann, C; Schara, U: ARX-mutation – phenotype and clinical course in two brothers with West Syndrome and developmental delay
P1313
Klinge, L; Clarke, NF; Goebel, HH; Schmidt, J; Gärtner, J; Wilichowski, E: Autosomal dominant congenital myopathy with fibre type disproportion due to mutation in the α slow-tropomyosin gene
P1314
Köhler, C; Heyer, C; Thiels, C; Lücke, T; Weigt-Usinger, K; Dekomien, G; Vorgerd, M: Muscular hypotonia, joint contractures and elevated creatin kinase level as main symptoms for Congenital muscular dystrophy 1A (MDC 1A/congenital muscular dystrophy with laminin α 2 (merosin) deficiency)
P1315
Baz Bartels, M; Vlaho, S; Dittrich, S; Althaus, J; Geb, S; Laufs, M; Hoche, F; Kieslich, M: Calpainopathy as differential diagnosis of idiopathic hyperCKemia
P1316
Vry, J; Holinski-Feder, E; Kirschner, J: 6q13–6q14.1 deletion syndrome characterized by congenital myopathy, mental retardation and minor dysmorphisms – a case report
P1317
Hoche, F; Laufs, M; Qirshi, M; Geb, S; Selter, M; Baz Bartels, M; Althaus, J; Dittrich, S; Vlaho, S; Kieslich, M: Autosomal dominant CMT-Type IB (Charcot-Marie-Tooth Neuropathy) as a differential diagnosis of clinically diagnosed autosomal recessive demyelinating CMT-Type 4E