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Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
Large duplication in MTM1 associated with myotubular myopathy.
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.
X-linked myotubular and centronuclear myopathies.
Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.
Muscle function in a canine model of X-linked myotubular myopathy.
Clinical utility gene card for: Centronuclear and myotubular myopathies.
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Protein Tyrosine Phosphatases, Non-Receptor
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.
Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.
Protein Tyrosine Phosphatases Non Receptor