推荐同事 机构合作 中文 繁體中文 English 한국어 日本語 Português Español

美国ACCDON公司旗下品牌

021-33361733,021-34243363

chinasupport@letpub.com

登录 注册 新注册优惠

[PDF] from hippokratia.grL Fidani, P Karagianni, C Tsakalidis, G Mitsiako… - Hippokratia, 2011 - hippokratia.gr
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy, usually characterized
by severe hy- potonia and difficulty in establishing spontaneous respira- tion at birth, in affected
males. The incidence of XLMTM is estimated at 2/100,000 male neonates. It was first de- ...
Related articles - All 2 versions

[CITATION] P3. 38 X-linked myotubular myopathy due to a complex rearrangement involving exon 10 of the myotubularin (MTM1) gene

N Trump, T Cullup, F Muntoni, J Verheij… - Neuromuscular …, 2011 - Elsevier
IC Lee, PH Su, JY Chen, JM Hu… - Journal of Child …, 2011 - jcn.sagepub.com
Abstract Myotubular myopathy is a rare congenital disease characterized by hypotonia and respiratory
compromise at birth in affected males. It causes high neonatal mortality. Most surviving newborns
need prolonged ventilation and have significantly delayed motor development. Although ...

[CITATION] 1FC2. 5 Recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene may mimick X-linked centronuclear (myotubular) myopathy (XLMTM)

AD Gika, S Lillis, T Cullup, I Bodi, P Manta… - European Journal of …, 2011 - Elsevier

[CITATION] … of morphological features of skeletal muscle biopsy with the gestational age of newborns with X-linked Myotubular myopathy, and comparison with the …

M Shichiji, V Biancalana, M Fardeau… - Neuromuscular …, 2011 - Elsevier

联系我们 | 站点地图 | 友情链接 | 授权代理商 | 加入我们

© 2010-2024 中国: LetPub上海    网站备案号:沪ICP备10217908号-1    沪公网安备号:31010402006960 (网站)31010405000484 (蝌蝌APP)

增值电信业务经营许可证:沪B2-20211595    网络文化经营许可证:沪网文[2023]2004-152号

礼翰商务信息咨询(上海)有限公司      办公地址:上海市徐汇区漕溪北路88号圣爱大厦1803室