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Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy
Distal hereditary motor neuropathies (dHMNs) are a heterogenous group of genetic disorders with length-dependent degeneration of motor axons. Obtaining a genetic diagnosis in patients with dHMN remains challenging. We performed exome sequencing in a diagnostic setting in 12 patients with a clinical...
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| Main Authors: | , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2014
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4023208/ https://ncbi.nlm.nih.gov/pubmed/24105373 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.231 |
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