Severe infantile myotubular myopathy with complete atrioventricular block

HIKITA Toshiyuki; WAKITA Suguru; MORI Yosuke; NAKAMOTO Natsue; TAKEDA Goichi; AKIYAMA Kaori; OGITA Kaori; IRIE Hiroshi; FUKUSATO Toshio; NONAKA Ikuya; YANAGAWA Yukishige

Art

J-GLOBAL ID：200902266230366618 Reference number：08A1037558

Severe infantile myotubular myopathy with complete atrioventricular block

完全房室ブロックを伴う重症乳児性筋細管ミオパシー

Publisher site Copy service {{ this.onShowCLink("http://jdream3.com/copy/?sid=JGLOBAL&noSystem=1&documentNoArray=08A1037558&COPY=1") }}
Access JDreamⅢ for advanced search and analysis. {{ this.onShowJLink("http://jdream3.com/lp/jglobal/index.html?docNo=08A1037558&from=J-GLOBAL&jstjournalNo=W1358A") }}

Author (11)： , , , , , , , , , ,
Material：
Volume： 50 Issue： 5 Page： 698-700 Publication year： Oct. 2008
JST Material Number： W1358A ISSN： 1328-8067 Document type： Article
Article type：短報 Country of issue： Australia (AUS) Language： ENGLISH (EN)

,...
,...

To see more with JDream III (charged). {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=08A1037558&from=J-GLOBAL&jstjournalNo=W1358A") }}

Diseases specific to children , Congenital diseases,deformities in general.

Reference (9)：

SPIRO, AJ. Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch. Neurol. 1966, 14, 1-14
VAN WIJNGAARDEN, GK. Familial 'myotubular' myopathy. Neurology. 1969, 19, 901-908
BIANCALANA, V. Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum. Genet. 2003, 112, 135-142
LAPORTE, J. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat. Genet. 1996, 13, 175-182
LEV, M. A method for the histopathologic study of the atrioventricular node, bundle, and branches. Arch. Pathol. 1951, 52, 73-83

ｍore...

, , ,

Return to Previous Page