Results 11 to 20 of about 658 (148)

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   +3 more sources

Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy [PDF]

JCI Insight
X-linked myotubular myopathy (XLMTM) due to MTM1 mutations is a rare and often lethal congenital myopathy. Its downstream molecular and cellular mechanisms are currently incompletely understood.
Elise Gerlach Melhedegaard, Fanny Rostedt, Charlotte Gineste, Robert A.E. Seaborne, Hannah F. Dugdale, Vladimir Belhac, Edmar Zanoteli, Michael W. Lawlor, David L. Mack, Carina Wallgren-Pettersson, Anthony L. Hessel, Heinz Jungbluth, Jocelyn Laporte, Yoshihiko Saito, Ichizo Nishino, Julien Ochala, Jenni Laitila   +16 more
doaj   +4 more sources

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial [PDF]

EBioMedicine, 2023
BACKGROUND: X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital muscle disease caused by mutations in the MTM1 gene that result in profound muscle weakness, significant respiratory insufficiency, and high infant mortality.
Prom, Mariah J, Lee, Jun, Saade, Dimah N, Miller, Weston, Prasad, Suyash, Foley, A Reghan, Seferian, Andreea M, Danielson, Susan, Sadhu, Chanchal, Kumar, Suresh N, Christensen, Sarah, Neuhaus, Sarah, Qasim, Ummulwara R, Müller-Felber, Wolfgang, Meng, Hui, Sepulveda, Bryan, Schoser, Benedikt, Vanden Avond, Mark, James, Emma S, Beggs, Alan H, Avond, Mark Vanden, Shieh, Perry B, Tsuchiya, Etsuko, Krakau, Paul, Kuntz, Nancy L, Bönnemann, Carsten G, Dowling, James J, Sewry, Caroline A, Ott, Emily, Beatka, Margaret, Smith, Barbara K, Margeta, Marta, Conner, Edward, Rico, Salvador, Blaschek, Astrid, Jones, Karra A, Gordish-Dressman, Heather, Varfaj, Fatbardha, Wells, Clive, Lawlor, Michael W   +39 more
core   +2 more sources

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition [PDF]

Acta Neuropathol, 2022
X-linked myotubular myopathy (XLMTM) is a fatal neuromuscular disorder caused by loss of function mutations in MTM1. At present, there are no directed therapies for XLMTM, and incomplete understanding of disease pathomechanisms.
Bonnemann, Carsten G., Volpatti, Jonathan R, Wilson, Michael D, Beggs, Alan H., Carsten G. Bonnemann, Beggs, Alan, Muntoni, Francesco, Rosanna Weksberg, Mélanie Mansat, Ege Sarikaya, Alvi, Sana Akhtar, Pannia, Emanuela, Payrastre, Bernard, Genetti, Casie A, Beggs, Alan H, Casie A. Genetti, Michael D. Wilson, Uusküla-Reimand, Liis, Dowling, James, Ghahramani-Seno, Mehdi, Volpatti, Jonathan R., Nesrin Sabha, Eric Chater-Diehl, Mansat, Mélanie, Genetti, Casie A., Ghahramani-Seno, Mehdi M., Maani, Nika, Wilson, Michael, Francesco Muntoni, Chicanne, Gaëtan, Bonnemann, Carsten G, Chater-Diehl, Eric, Weksberg, Rosanna, Monis, Simon, Yuki, Kyoko E, Bernard Payrastre, Simon Monis, Sabha, Nesrin, Combes-Soia, Lucie, Alper Celik, Bonnemann, Carsten, Sarikaya, Ege, Yuki, Kyoko E., Wilson, Michael D., Julien Viaud, Froment, Carine, Emanuela Pannia, Liis Uusküla-Reimand, Gaëtan Chicanne, Sarah J. Goodman, Dowling, James J, Alan H. Beggs, Celik, Alper, Lucie Combes-Soia, Mehdi M. Ghahramani-Seno, Nika Maani, Goodman, Sarah, James J. Dowling, Sana Akhtar Alvi, Goodman, Sarah J., Volpatti, Jonathan, Ghahramani-Seno, Mehdi M, Goodman, Sarah J, Carine Froment, Kyoko E. Yuki, Yuki, Kyoko, Jonathan R. Volpatti, Viaud, Julien, Genetti, Casie, Dowling, James J.   +69 more
core   +3 more sources

Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study [PDF]

Journal of Neuromuscular Diseases
Background X-linked myotubular myopathy (XLMTM) and autosomal dominant centronuclear myopathy (ADCNM) are rare neuromuscular disorders characterized by severe weakness and respiratory impairment and have recently been the focus of therapeutic development. Robust baseline data are essential
Olga Prikhodko, Tatyana A. Vetter, Sophie Colombo, Chris Freitag, Dominique Nijkamp, Louise Eyler, Leen Thielemans, Jonathan Baets, Mads Stemmerik, John Vissing, Ros Quinlivan, Michela Guglieri, Federica Montagnese, Benedikt Schoser, Frederik Braun, Ulrike Schara, Kris E. Leeuwenberg, Nens van Alfen, Michael W. Lawlor, Belinda S Cowling, Nicol C. Voermans   +20 more
openaire   +3 more sources

X‐linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat

Journal of Veterinary Internal Medicine, 2022
Objective Describe the clinical course and diagnostic and genetic findings in a cat with X‐linked myotubular myopathy. Case Summary A 7‐month‐old male Maine coon was evaluated for progressively worsening gait abnormalities and generalized weakness ...
Matthew A. Kopke, G. Diane Shelton, Leslie A. Lyons, Meredith J. Wall, Sarah Pemberton, Kristene R. Gedye, Rebecca Owen, Ling T. Guo, Reuben M. Buckley, Juan A. Valencia, 99 Lives Consortium, Boyd R. Jones   +11 more
doaj   +2 more sources

X-linked myotubular myopathy in a family of two infant siblings: A case report and review

Pediatrics and Neonatology
X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation.
Amelia Suan-Lin Koe, Yee Yin Tan, Shrenik Vora   +2 more
doaj   +2 more sources

Mutation spectrum of the MTM1 gene in XLMTM patients: 10 years of experience in prenatal and postnatal diagnosis

Clinical Genetics, 2015
AbstractX‐linked myotubular myopathy (XLMTM) is a congenital neuromuscular disorder defined by severe hypotonia, respiratory failure and histopathologic changes in muscle biopsy. The objective of this report is to inform about our experience of genetic analysis on a group of 25 unrelated XLMTM patients, clinically diagnosed by several Italian and ...
Longo, G, Russo, S, NOVELLI, GIUSEPPE, SANGIUOLO, FEDERICA CARLA, D'APICE, MARIA ROSARIA   +4 more
openaire   +5 more sources

Prognostic Value of Genotype–Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool [PDF]

Genes (Basel), 2023
Background: X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the MTM1 gene. XLMTM has a high neonatal and infantile mortality rate due to a severe myopathic phenotype and
Johannes A. Mayr, Karoline Ornig, Denisa Weis, Miriam Kolníková, Katarína Kušíková, Serge Weis, Ognian Kalev, René G. Feichtinger, Daniela Gašperíková, Andrej Ficek, Martina Škopková, Andrea Šoltýsová   +11 more
core   +2 more sources

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes [PDF]

Frontiers in Medicine
BackgroundCongenital myopathies (CMs) are a heterogeneous group of rare or ultra-rare inherited muscular disorders in which cognitive, neuropsychological and psychosocial outcomes remain poorly characterized.ObjectiveTo synthesize current evidence on ...
Sergio Rinella, Gennaro Anastasio, Gennaro Anastasio, Annamaria Sapuppo, Manuela Lo Bianco, Roberta Leonardi, Roberta Leonardi, Piero Pavone, Martino Ruggieri, Agata Polizzi   +9 more
doaj   +2 more sources