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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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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Myosin inhibition partially rescues the myofiber proteome in X-linked myotubular myopathy [PDF]
JCI InsightX-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 +16 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
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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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X-linked myotubular myopathy in a neonate: a case report and literature review [PDF]
Frontiers in PediatricsBackgroundX-linked centronuclear myopathy (XLCNM) is a rare congenital neuromuscular disorder caused by pathogenic variants in MTM1, typically presenting with severe neonatal hypotonia, respiratory failure, and poor survival. Early diagnosis is essential
Lin Chen, You-Qun Zou
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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
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Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy [PDF]
The Journal of Clinical Investigation, 2023 X-linked myotubular myopathy (XLMTM) is a fatal congenital disorder caused by mutations in the MTM1 gene. Currently, there are no approved treatments, although AAV8-mediated gene transfer therapy has shown promise in animal models and preliminarily in ...
Sophie Karolczak +9 more
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rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy [PDF]
Acta Neuropathologica Communications, 2020 X-linked myotubular myopathy (XLMTM) is a life-threatening skeletal muscle disease caused by mutations in the MTM1 gene. XLMTM fibres display a population of nuclei mispositioned in the centre.
Jacob A. Ross +12 more
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Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis [PDF]
International Journal of Women's HealthShixin Chen,1,* Bin Liang,1,* Na Lin,1 Mian Pan,2 Li Li2 1Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defects, Fujian Maternity and Child Health Hospital, College of Clinical ...
Chen S, Liang B, Lin N, Pan M, Li L
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