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ALS5/SPG11/ KIAA1840 mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Charcot–Marie–Tooth disease is a group of hereditary peripheral neuropathies that share clinical characteristics of progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss, as well as diminished tendon reflexes. Hundreds of causative DNA changes have been found, but muc...

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書目詳細資料
發表在:Brain
Main Authors: Montecchiani, Celeste, Pedace, Lucia, Lo Giudice, Temistocle, Casella, Antonella, Mearini, Marzia, Gaudiello, Fabrizio, Pedroso, José L., Terracciano, Chiara, Caltagirone, Carlo, Massa, Roberto, St George-Hyslop, Peter H., Barsottini, Orlando G. P., Kawarai, Toshitaka, Orlacchio, Antonio
格式: Artigo
語言:Inglês
出版: Oxford University Press 2016
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5839554/
https://ncbi.nlm.nih.gov/pubmed/26556829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awv320
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