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Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Dominant congenital spinal muscular atrophy (DCSMA) is a disorder of developing anterior horn cells and shows lower-limb predominance and clinical overlap with hereditary spastic paraplegia (HSP), a lower-limb-predominant disorder of corticospinal motor neurons. We have identified four mutations in...
में बचाया:
मुख्य लेखकों: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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स्वरूप: | Artigo |
भाषा: | Inglês |
प्रकाशित: |
Elsevier
2013
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विषय: | |
ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3675232/ https://ncbi.nlm.nih.gov/pubmed/23664120 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.04.018 |
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