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The role of SMN in spinal muscular atrophy

✍ Scribed by S. Jablonka; W. Rossoll; B. Schrank; M. Sendtner

Publisher: Springer
Year: 2000
Tongue: English
Weight: 61 KB
Volume: 247
Category: Article
ISSN: 0340-5354
DOI: 10.1007/s004150050555

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## Abstract Deletions or mutations in __survival of motor neuron 1__ (__SMN1__) cause motor neuron loss and spinal muscular atrophy (SMA), a neuromuscular disorder, with the most severe type manifesting in utero. Whether SMA is a disease of defects in neurodevelopment and/or neuromaintenance remain