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Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron

✍ Scribed by Denise Locatelli; Paolo d’Errico; Silvia Capra; Adele Finardi; Francesca Colciaghi; Veronica Setola; Mineko Terao; Enrico Garattini; Giorgio Battaglia

Book ID
111184852
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
828 KB
Volume
121
Category
Article
ISSN
0022-3042

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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