[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
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