Article
Altered bone development with impaired cartilage formation precedes neuromuscular symptoms in spinal muscular atrophy.
Human molecular genetics - 29 Sept 2020
Hensel Niko, Brickwedde Hermann, Tsaknakis Konstantinos, Grages Antonia, Braunschweig Lena, Lüders Katja A, Lorenz Heiko M, Lippross Sebastian, Walter Lisa M, Tavassol Frank, Lienenklaus Stefan, Neunaber Claudia, Claus Peter, Hell Anna K
Abstract excerpt
Spinal muscular atrophy (SMA) is a fatal neurodegenerative disease of newborns and children caused by mutations or deletions of the survival of motoneuron gene 1 resulting in low levels of the SMN protein. While neuromuscular degeneration is the cardinal symptom of the disease, the reduction of the ubiquitously expressed SMN additionally elicits non-motoneuron symptoms. Impaired bone development is a key feature...
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