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ARCHIVES DE PEDIATRIE
卷 15, 期 10, 页码 1568-1572出版社
ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER
DOI: 10.1016/j.arcped.2008.07.014
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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). (C) 2008 Elsevier Masson SAS. All rights reserved.
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