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Case Report

Open Access

Myotubular myopathy associated with hypoxicischem-ic encephalopathy as a cause of prolonged ventilatory dependency  


1,Pediatric Intensiv Care Unit Department of Pediatrics University Hospital Rijeka

2Department of Pathology, Medical Faculty, University of Rijeka

3Department of Paediatrics, Div of Human Genetics

4Department of Physiology and Immunology, Medical Faculty, University of Rijeka

DOI: 10.22514/SV11.102006.7 Vol.1,Issue 1,October 2006 pp.33-35

Published: 08 October 2006

*Corresponding Author(s): KRISTINA LAH TOMULIĆ E-mail:


myotubular myopathy, muscle biopsy, genetic analysis hypoxic-ischemic encephalopathy  

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KRISTINA LAH TOMULIĆ,SANDRO DESSARDO,GORDANA ZAMOLO,SABINA GALLATI,MILJEN GAZDIK,NATALIA KUČIĆ,NEVEN FLETA. Myotubular myopathy associated with hypoxicischem-ic encephalopathy as a cause of prolonged ventilatory dependency . Signa Vitae. 2006. 1(1);33-35.


1 Sarnat HB. Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases with fetal and neonatal muscle. Can J Neurol Sci 1990; 17: 109-123.

2 Dorchies OM, Laporte J, Wagner S, Hindelang C, Warter JM, Mandel JL et al. Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system. Neuromuscul Disord 2001; 11: 736-746.

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4 Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF et al. A gene mutated in x-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yast. Nature Genetics 1996; 13: 175-182.

5 Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payastre B, Mandel J-L. Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Molec Genet 2000;15:2223-9

6 Laporte J, Blondeau F, Buj-Bello A, Mandel JL. The myotubularin phosphatase family: from genetic diseases to phosphoinositide metabolism. Trends Genet 2001; 4:221-8.

7 Biancalana V, Caron O, Gallati S, Baas F, Kress W, Novelli G et al. Characterization of mutations in 77 patients with x-linked myotubular myopathy, including a family with very mild phenotype. Human Genetics 2003: 112: 135-142.

8 Hammans SR, Robinson DO, Moutou C, Kennedy CR, Dennis NR, Hughes PJ et al. A clinical and genetic study of a manifesting heterozygote with X-linked myotubular myopathy. Neuromuscul Disord 2000; 10:133-7.

9 Sutton IJ, Winer JB, Norman AN, Liechti-Gallati S, MacDonald F. Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations. Neurology 2001;5:900-902.

10 Volpe JJ. Brain injury in the premature infant: Neuropathology, clinical aspects, pathogenesis and prevention. Clin Perinatol 1997; 3: 567-587.

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