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Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy
INTRODUCTION: Progressive bulbar motor neuropathy is primarily caused by bulbar-onset ALS. Hereditary amyloidosis type IV also presents with a bulbar neuropathy that mimicks motor neuron disease. The disease is prevalent in Finland only and is not commonly included in the differential diagnosis of A...
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| 出版年: | Muscle Nerve |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5494018/ https://ncbi.nlm.nih.gov/pubmed/28039894 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.25550 |
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