- 期刊
X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child
若您是本文的作者，可授權文章由華藝線上圖書館中協助推廣。
並列摘要
We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis. The infant had a long thin face, generalized hypotonia, and arachnodactyly. Diagnosis was based on fetal history, muscle histopathology, electron microscopy and a genetic study. A base pair change was detected in exon 11 of the MTM1 gene: c.1160C＞A, which caused an amino acid change, p.S387Y. The father's gene was normal but the mother had the same mutation as her son and was thus a carrier.
延伸閱讀
- Hwa, H. L., Chang, Y. Y., Huang, C. H., Chen, C. H., Kao, Y. S., Jong, Y. J., Chao, M. C., & Ko, T. M. (2008). Small Mutations of the DMD Gene in Taiwanese Families. Journal of the Formosan Medical Association, 107(6), 463-469. https://www.airitilibrary.com/Article/Detail?DocID=09296646-200806-107-6-463-469-a
- Kuo, H. C., Huang, C. C., Chu, C. C., Chiang, S. Y., & Hsiao, K. M. (2003). Autosomal Dominant Myotonia Congenita in a Taiwanese Family and Beneficial Response to Mexiletine. Acta Neurologica Taiwanica, 12(3), 130-135. https://www.airitilibrary.com/Article/Detail?DocID=10196099-200309-12-3-130-135-a
- Tsai, F. J., Lee, C. C., Wu, M. C., Lin, S. P., Lin, C. Y., Tsai, C. H., Kodama, H., & Wu, J. Y. (2001). Mutation Analysis of Type II Gaucher Disease in Five Taiwanese Children: Identification of Two Novel Mutations. Acta Paediatrica Taiwanica, 42(4), 231-235. https://doi.org/10.7097/APT.200108.0231
- 鄧燕妮、李桂禎、王作仁、胡務亮（2000）。Characterization of Novel Mutation of IDUA Gene in a Chinese Patient with Hurler Syndrome。師大學報：數理與科技類，45(1&2)，1-9。https://doi.org/10.6301/JNTNU.2000.45.01
- Cheng, J. F., Ou, Y. H., Lio, M. L., Yang, R. C., Chang, T. M., Chang, M. Y., Chen, M., Ma, G. C., Chang, T. Y., & Lee, M. H. (2020). Identifying a Novel DCX Mutation in a Taiwanese Boy With Lissencephaly: A Case Report. The Changhua Journal of Medicine, 18(4), 134-138. https://doi.org/10.6501/CJM.202012_18(4).0004