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Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

Spinal muscular atrophy (SMA) is an autosomal recessive disorder that is the leading genetic cause of infantile death. SMA is characterized by loss of motor neurons in the ventral horn of the spinal cord, leading to weakness and muscle atrophy. SMA occurs as a result of homozygous deletion or mutati...

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Bibliographic Details
Main Authors: Shababi, Monir, Lorson, Christian L, Rudnik-Schöneborn, Sabine S
Format: Artigo
Language:Inglês
Published: Blackwell Science Inc 2014
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3867883/
https://ncbi.nlm.nih.gov/pubmed/23876144
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/joa.12083
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