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Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

Hereditary spinal muscular atrophy is a motor neuron disorder characterized by muscle weakness and atrophy due to degeneration of the anterior horn cells of the spinal cord. Initially, the disease was considered purely as an autosomal recessive condition caused by loss-of-function SMN1 mutations on...

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Autori principali: Peeters, Kristien, Chamova, Teodora, Jordanova, Albena
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4208460/
https://ncbi.nlm.nih.gov/pubmed/24970098
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu169
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