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Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome
OBJECTIVE: To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure. METHODS: Identification of the responsible gene by exome sequencing and assessment of the effect of the mutation on protein stability in...
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| 發表在: | Neurology |
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| Main Authors: | , , , , , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Lippincott Williams & Wilkins
2017
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5384838/ https://ncbi.nlm.nih.gov/pubmed/28188302 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000003720 |
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