DOI : 10.1055/s-00000041


Issue 01 · Volume 35 · February 2004 DOI: 10.1055/s-002-3101

Abstracts for the 30th Annual Meeting of the Society for Neuropediatrics (Gesellschaft für Neuropädiatrie)
Bern, Switzerland, March 25–28, 2004

M. Steinlin

Sandkoetter, J.; Debus, O.; Young, P.; Kuhlenbaeumer, G.; Kurlemann, G.: Hereditary motor and sensory neuropathy (HMSN) Ia with cerebellar hypoplasia and ataxia
Ittner, K.; Ding, X.; Hagel, C.; Neuen-Jacob, E.; Herkenrath, P.; Kohlschütter, A.: Congenital peripheral neuropathy with optic atrophy and symmetric white matter lesions
Guenther, U. P.; Schuelke, M.; Bertini, E.; Grohmann, K.; Hübner, C.; Varon, R.: A heterozygous genomic rearrangement in a patient with juvenile spinal muscle atrophy with respiratory distress type 1 (SMARD1)
Gruber-Sedlmayr, U.; Brunner-Krainz, M.; Plecko, B.; Löscher, W.; Sieb, J. P.: Congenital myasthenia with homozygotic mutation N88K of the rapsyn gene with infect associated respiratory insufficiency
Schrader, K.; Broxtermann, W.; Sieb, J.; Steinlein, O.; Ebinger, F.; Rating, D.: Congenital myasthenic syndrome in a girl from Albania