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Cardiac pathology in spinal muscular atrophy: a systematic review
BACKGROUND: Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular disease of childhood caused by homozygous loss of function of the survival motor neuron (SMN) 1 gene. The presence of a second, nearly identical SMN gene (SMN2) in the human genome ensures production of residual...
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| 出版年: | Orphanet J Rare Dis |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5387385/ https://ncbi.nlm.nih.gov/pubmed/28399889 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0613-5 |
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