Results 11 to 20 of about 27,107 (181)
Tamoxifen therapy in a murine model of myotubular myopathy [PDF]
Nature Communications, 2018 Myotubular myopathy is a severe muscle disease for which no effective treatment exists. Here, the authors show that tamoxifen ameliorates pathology and extends survival in a mouse model of the disease, and that the effect is mediated via estrogen ...
Nika Maani +12 more
doaj +6 more sources
X-linked recessive myotubular myopathy with mutations [PDF]
Korean Journal of Pediatrics, 2013 X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males.
Young-Mi Han +7 more
doaj +3 more sources
Dementia in a Child with Myotubular Myopathy [PDF]
Pediatric Neurology, 2009 An 8-year old boy with genetically confirmed X-linked myotubular myopathy developed progressively worsening dementia and subclinical seizures at age 5-6 years. Previously, seizures or dementia have been noted in only a small number of myotubular myopathy patients, and only in association with significant metabolic disturbances.
Mccrea, Heather +3 more
openaire +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
PLoS Genetics, 2009 Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current ...
James J Dowling +6 more
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
A real-world analysis of the impact of X-linked myotubular myopathy on caregivers in the United States [PDF]
Orphanet Journal of Rare DiseasesBackground X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, which often includes the need for invasive ventilator support, gastrostomy tube feeding, and wheelchair use in approximately 80%
Tina Duong +8 more
doaj +2 more sources
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
doaj +2 more sources