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Autosomal dominant congenital spinal muscular atrophy – A possible developmental deficiency of motor neurones?

✍ Scribed by S. Reddel; R.A. Ouvrier; G. Nicholson; I. Dierick; J. Irobi; V. Timmerman; M.M. Ryan


Book ID
115542828
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
522 KB
Volume
18
Category
Article
ISSN
0960-8966

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Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle atrophy. SMA is one of the most frequent autosomal recessive diseases, with a carrier frequency of 1 in 50 and the most common g