Results 21 to 30 of about 27,107 (181)

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene. [PDF]

Int J Mol Sci, 2023
X-linked centronuclear myopathy is caused by pathogenic variants in the MTM1 gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital myopathy predominantly affects males. This study presents a case
Chausova P, Murtazina A, Stepanova A, Borovicov A, Kovalskaia V, Ryadninskaya N, Chukhrova A, Ryzhkova O, Poliakov A.   +8 more
europepmc   +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

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

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   +2 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   +2 more sources

A Novel De Novo MTM1 Insertion Frameshift Variant Causes X-Linked Myotubular Myopathy in a Chinese Female. [PDF]

Mol Genet Genomic Med
A 24‐year‐old heterozygous woman presented with lifelong hypotonia and slowly progressive, asymmetric axial and limb‐girdle weakness with facial/ocular involvement and restrictive ventilatory impairment (FVC 53.12% predicted). Multimodal evaluation (EMG, muscle MRI, and whole‐exome sequencing [WES]) identified a de novo MTM1 frameshift variant ...
Chen L, Bao Y, Liu G.
europepmc   +2 more sources

A mutation in MTM1 causes X-Linked myotubular myopathy in Boykin spaniels. [PDF]

Neuromuscul Disord, 2020
The purpose of this study was to report the findings of clinical and genetic evaluation of a 3-month old male Boykin spaniel (the proband) that presented with progressive weakness.
Olby NJ, Friedenberg S, Meurs K, DeProspero D, Guevar J, Lau J, Yost O, Guo LT, Shelton GD.   +8 more
europepmc   +4 more sources

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   +2 more sources

Genetic linkage heterogeneity in myotubular myopathy.

American journal of human genetics, 1970
Myotubular myopathy is a severe congenital disease inherited as an X-linked trait (MTM1; McKusick 31040). It has been mapped to the long arm of chromosome X, to the Xq27-28 region. Significant linkage has subsequently been established for the linkage group comprised of DXS304, DXS15, DXS52, and F8C in several studies. To date, published linkage studies
Samson, F., Mesnard, L., Heimburger, M., Hanauer, André, Chevallay, M., Mercadier, J., Pelissier, J., Feingold, N., Junien, C., Mandel, Jean-Louis, Fardeau, M.   +10 more
openaire   +3 more sources

X-linked myotubular myopathy [PDF]

Neuromuscular Disorders, 2021
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal phosphatase that acts to dephosphorylate key second messenger lipids PI3P and PI3,5P2. XLMTM is clinically characterized by profound muscle weakness and associated with multiple disabilities ...
Michael W. Lawlor, James J. Dowling
openaire   +2 more sources