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L'amyotrophie spinale distale de type 1 (DSMA1 ou SMARD1)

Research output: Contribution to journalArticle

A M Kaindl, U-P Guenther, S Rudnik-Schöneborn, R Varon, K Zerres, P Gressens, M Schuelke, C Hubner, K von Au

Original languageFrench
Article numberN/A
Pages (from-to)1568-1572
Number of pages5
JournalArchives De Pediatrie
Volume15
Issue number10
DOIs
Publication statusPublished - Oct 2008

King's Authors

Abstract

In 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).

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