X‐linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat [PDF]
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 +11 more
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Respiratory care in myotubular myopathy [PDF]
ERJ Open Research, 2021 X-linked myotubular myopathy is a neuromuscular condition caused by pathogenic variants in the MTM1 gene, which encodes for myotubularin, a phosphatidylinositol 3-phosphate phosphatase.
Hui-leng Tan, Elaine Chan
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Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice [PDF]
JCI Insight, 2023 Phosphoinositides (PIs) are membrane lipids that regulate signal transduction and vesicular trafficking. X-linked centronuclear myopathy (XLCNM), also called myotubular myopathy, results from loss-of-function mutations in the MTM1 gene, which encodes the
Xènia Massana-Muñoz +8 more
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Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients [PDF]
Molecular Therapy: Methods & Clinical Development, 2020 Myotubular myopathy, also called X-linked centronuclear myopathy (XL-CNM), is a severe congenital disease targeted for therapeutic trials. To date, biomarkers to monitor disease progression and therapy efficacy are lacking.
Catherine Koch +27 more
doaj +5 more sources
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO study [PDF]
Therapeutic Advances in Rare DiseaseWhat is this summary about? This summary describes the results of a research study (clinical trial) called ASPIRO that was published in the Lancet Neurology in 2023.
Perry B. Shieh +26 more
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Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States [PDF]
Orphanet Journal of Rare Diseases, 2023 Background X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, often requiring invasive ventilator support, gastrostomy tube feeding, and wheelchair use.
Robert J. Graham +6 more
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Natural history of a mouse model of X-linked myotubular myopathy [PDF]
Disease Models & Mechanisms, 2022 X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of the skeletal muscle. It is caused by loss-of-expression/function mutations in the myotubularin (MTM1) gene.
Ege Sarikaya +9 more
doaj +2 more sources
Biomolecules, 2023 Myo-inositol belongs to one of the sugar alcohol groups known as cyclitols. Phosphatidylinositols are one of the derivatives of Myo-inositol, and constitute important mediators in many intracellular processes such as cell growth, cell differentiation ...
Adam Osowski +2 more
exaly +3 more sources
Lack of myotubularin phosphatase activity is the main cause of X-linked myotubular myopathy [PDF]
JCI InsightThe MTM1 gene encodes myotubularin (MTM1), a phosphatidylinositol 3-phosphate [PI(3)P] lipid phosphatase. Loss-of-function mutations in MTM1 cause X-linked myotubular myopathy (XLMTM), a severe congenital myopathy with no available cure and a poorly ...
Foteini Moschovaki-Filippidou +5 more
doaj +2 more sources
Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy [PDF]
Disease Models & Mechanisms, 2022 Generating reliable preclinical data in animal models of disease is essential in therapy development. Here, we performed statistical analysis and joint longitudinal–survival modeling of the progressive phenotype observed in Mtm1−/y mice, a reliable model
Suzie Buono +8 more
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