Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.

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Published in Nat Genet on September 01, 2001

Authors

K Grohmann1, M Schuelke, A Diers, K Hoffmann, B Lucke, C Adams, E Bertini, H Leonhardt-Horti, F Muntoni, R Ouvrier, A Pfeufer, R Rossi, L Van Maldergem, J M Wilmshurst, T F Wienker, M Sendtner, S Rudnik-Schöneborn, K Zerres, C Hübner

Author Affiliations

1: Department of Neuropediatrics, Charité, Campus Virchow-Klinikum, Humboldt University, 13353 Berlin, Germany.

Associated clinical trials:

Gene Therapy for IGHMBP2-Related Diseases | NCT05152823

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