Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
A M Kaindl, U-P Guenther, S Rudnik-Schöneborn, R Varon, K Zerres, P Gressens, M Schuelke, C Hubner, K von Au
Charité, service de neuropédiatrie, hôpital universitaire, campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Allemagne. kaindl@rdebre.inserm.fr
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2008 OctIn this article, we review the clinical, neuropathological and genetic aspects of distal spinal-muscular atrophy 1 (DSMA1; MIM#604320), formerly designated as autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) and also known as distal hereditary-motor neuropathy type 6 (dHMN6 or HMN6).
Citation
A M Kaindl, U-P Guenther, S Rudnik-Schöneborn, R Varon, K Zerres, P Gressens, M Schuelke, C Hubner, K von Au. Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)]. Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie. 2008 Oct;15(10):1568-72
Mesh Tags
PMID: 18804971
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