Results 11 to 20 of about 7,553,951 (168)

X-linked recessive myotubular myopathy with mutations [PDF]

Korean Journal of Pediatrics, 2013
X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males.
Young-Mi Han, Kyoung-Ah Kwon, Yun-Jin Lee, Sang-Ook Nam, Kyung-Hee Park, Shin-Yun Byun, Gu-Hwan Kim, Han-Wook Yoo   +7 more
doaj   +6 more sources

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy [PDF]

Nature Communications, 2018
X-linked myotubular myopathy (XLMTM) is a severe muscle disease with no effective treatment. Here, the authors show that tamoxifen, a drug used to treat breast cancer, rescues the pathology in a mouse model of the disease, at least in part by normalizing
Elinam Gayi, Laurence A. Neff, Xènia Massana Muñoz, Hesham M. Ismail, Marta Sierra, Thomas Mercier, Laurent A. Décosterd, Jocelyn Laporte, Belinda S. Cowling, Olivier M. Dorchies, Leonardo Scapozza   +10 more
doaj   +3 more sources

Muscle function in A canine model of X‐linked myotubular myopathy [PDF]

Muscle & Nerve, 2012
AbstractIntroduction: We established a colony of dogs that harbor an X‐linked MTM1 missense mutation.Muscle from affected male dogs exhibits reduction and altered localization of the MTM1 gene product, myotubularin, and provides a model analogous to X‐linked myotubular myopathy (XLMTM). Methods: We studied hindlimb muscle function in age‐matched canine
Grange, Robert, Doering, Jon, Mitchell, Erin, Holder, Melanie, Guan, Xuan, Goddard, Melissa, Tegeler, Christopher, Beggs, Alan, Childers, Martin   +8 more
openaire   +4 more sources

X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child

Journal of the Formosan Medical Association, 2008
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 ...
Chia-Ying Chang, Shuan-Pei Lin, Hsiang-Yu Lin, Chih-Kuang Chuang, Che-Sheng Ho, Yi-Ning Su   +5 more
doaj   +3 more sources

Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM) [PDF]

Stem Cell Research, 2023
Centronuclear myopathies (CNMs) are a group of inherited rare muscle disorders characterised by the abnormal position of the nucleus in the center of the muscle fiber.
Liani G. Devito, Valentina M. Lionello, Francesco Muntoni, Francesco Saverio Tedesco, Lyn Healy   +4 more
doaj   +4 more sources

An algorithm for discontinuing mechanical ventilation in boys with x-linked myotubular myopathy after positive response to gene therapy: the ASPIRO experience [PDF]

Respiratory Research
X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy. Most (80%) children with XLMTM have profound muscle weakness and hypotonia at birth resulting in severe respiratory insufficiency, the inability to sit up, stand or ...
Robert J. Graham, Reshma Amin, Nadir Demirel, Lisa Edel, Charlotte Lilien, Victoria MacBean, Gerrard F. Rafferty, Hemant Sawnani, Carola Schön, Barbara K. Smith, Faiza Syed, Micaela Sarazen, Suyash Prasad, Salvador Rico, Geovanny F. Perez   +14 more
doaj   +2 more sources

A real-world analysis of the impact of X-linked myotubular myopathy on caregivers in the United States [PDF]

Orphanet Journal of Rare Diseases
Background X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, which often includes the need for invasive ventilator support, gastrostomy tube feeding, and wheelchair use in approximately 80%
Tina Duong, Tmirah Haselkorn, Beckley Miller, Julie Coats, Ivar Jensen, Erin Ward, Marie Wood, Robert J. Graham, Laurent Servais   +8 more
doaj   +2 more sources

Floppy Infant Syndrome: new approach to the study of neonatal hypotonia through the analysis of a rare case of X-Linked Myotubular Myopathy

Journal of Pediatric and Neonatal Individualized Medicine, 2014
The Floppy Infant Syndrome includes a variety of signs and symptoms: decrease in muscle tone (hypotonia), in muscle power (weakness) and ligamentous laxity and increased range of joint mobility.
Massimiliano De Vivo, Silvana Rojo, Roberto Rosso, Giovanni Chello, Paolo Giliberti   +4 more
doaj   +2 more sources

A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System [PDF]

Orphanet Journal of Rare Diseases
Background X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the XLMTM disease burden have been conducted in Brazil.
Paulo Victor Sgobbi Souza, Tmirah Haselkorn, Jader Baima, Renato Watanabe Oliveira, Fabián Hernández, Marina G. Birck, Marcondes C. França   +6 more
doaj   +2 more sources

Diagnosis of X‐linked myotubular myopathy by detection of myotubularin

Annals of Neurology, 2001
AbstractMutations in the MTM1 gene cause X‐linked recessive myotubular myopathy (XLMTM; MIM310400). Myotubularin, the implicated protein, is a phosphoinositide phosphatase that belongs to a large protein family conserved through evolution that also includes the antiphosphatase Sbf1 and the protein hMTMR2 mutated in Charcot‐Marie‐Tooth type 4B ...
Laporte, Jocelyn, Kress, Wolfram, Mandel, Jean-Louis   +2 more
openaire   +3 more sources