Results 11 to 20 of about 2,741 (208)

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy. [PDF]

Int J Mol Sci, 2022
Myotubular myopathy; Novel mutation; SplicingMiopatía miotubular; Nueva mutación; EmpalmeMiopatia miotubular; Nova mutació; EmpalmamentX-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by generalized weakness ...
Bosco L, Leone D, Costa Comellas L, Monforte M, Pane M, Mercuri E, Bertini E, D'Amico A, Fattori F.   +8 more
europepmc   +3 more sources

Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy [PDF]

The Journal of Clinical Investigation, 2023
X-linked myotubular myopathy (XLMTM) is a fatal congenital disorder caused by mutations in the MTM1 gene. Currently, there are no approved treatments, although AAV8-mediated gene transfer therapy has shown promise in animal models and preliminarily in ...
Sophie Karolczak, Ashish R. Deshwar, Evangelina Aristegui, Binita M. Kamath, Michael W. Lawlor, Gaia Andreoletti, Jonathan Volpatti, Jillian L. Ellis, Chunyue Yin, James J. Dowling   +9 more
doaj   +2 more sources

Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis [PDF]

International Journal of Women's Health
Shixin Chen,1,* Bin Liang,1,* Na Lin,1 Mian Pan,2 Li Li2 1Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defects, Fujian Maternity and Child Health Hospital, College of Clinical ...
Chen S, Liang B, Lin N, Pan M, Li L
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

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. [PDF]

J Neuromuscul Dis, 2022
BACKGROUND: X-linked myotubular myopathy (XLMTM) is a life-threatening congenital myopathy that, in most cases, is characterized by profound muscle weakness, respiratory failure, need for mechanical ventilation and gastrostomy feeding, and early death ...
Dowling JJ, Müller-Felber W, Smith BK, Bönnemann CG, Kuntz NL, Muntoni F, Servais L, Alfano LN, Beggs AH, Bilder DA, Blaschek A, Duong T, Graham RJ, Jain M, Lawlor MW, Lee J, Coats J, Lilien C, Lowes LP, MacBean V, Neuhaus S, Noursalehi M, Pitts T, Finlay C, Christensen S, Rafferty G, Seferian AM, Tsuchiya E, James ES, Miller W, Sepulveda B, Vila MC, Prasad S, Rico S, Shieh PB, INCEPTUS investigators.   +35 more
europepmc   +4 more sources

Tamoxifen therapy in a murine model of myotubular myopathy [PDF]

Nature Communications, 2018
Myotubular myopathy is a severe muscle disease for which no effective treatment exists. Here, the authors show that tamoxifen ameliorates pathology and extends survival in a mouse model of the disease, and that the effect is mediated via estrogen ...
Nika Maani, Nesrin Sabha, Kamran Rezai, Arun Ramani, Linda Groom, Nadine Eltayeb, Faranak Mavandadnejad, Andrea Pang, Giulia Russo, Michael Brudno, Volker Haucke, Robert T. Dirksen, James J. Dowling   +12 more
doaj   +2 more sources

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy [PDF]

Acta Neuropathologica Communications, 2020
X-linked myotubular myopathy (XLMTM) is a life-threatening skeletal muscle disease caused by mutations in the MTM1 gene. XLMTM fibres display a population of nuclei mispositioned in the centre.
Jacob A. Ross, Hichem Tasfaout, Yotam Levy, Jennifer Morgan, Belinda S. Cowling, Jocelyn Laporte, Edmar Zanoteli, Norma B. Romero, Dawn A. Lowe, Heinz Jungbluth, Michael W. Lawlor, David L. Mack, Julien Ochala   +12 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

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

X-linked myotubular myopathy: A prospective international natural history study. [PDF]

Neurology, 2019
Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures.We designed an international prospective and longitudinal natural history ...
Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L.   +23 more
europepmc   +7 more sources