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PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usu...
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| Main Authors: | , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3994927/ https://ncbi.nlm.nih.gov/pubmed/24646194 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-38 |
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