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  • Title: [Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].
    Author: Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Gressens P, Schuelke M, Hubner C, von Au K.
    Journal: Arch Pediatr; 2008 Oct; 15(10):1568-72. PubMed ID: 18804971.
    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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