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
doaj +7 more sources
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
doaj +5 more sources
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
doaj +4 more sources
Centronuclear (myotubular) myopathy [PDF]
Orphanet Journal of Rare Diseases, 2008 Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
Wallgren-Pettersson Carina +2 more
doaj +3 more sources
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. [PDF]
PLoS Genetics, 2013 X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin ...
Vandana A Gupta +11 more
doaj +5 more sources
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
doaj +2 more sources
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
A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report [PDF]
Egyptian Journal of Medical Human Genetics, 2021 Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient from Neonatal
Aleksandra Dudzik +8 more
doaj +2 more sources
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 +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
doaj +2 more sources