Results 1 to 10 of about 51 (46)
Hepatobiliary Disease in XLMTM: A Common Comorbidity With Potential Impact on Treatment Strategies
Orphanet Journal of Rare Diseases, 2021 Background X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require ...
Michele Tôsi, Adele D'Amico, Luca Bosco
exaly +2 more sources
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.
Alan H. Beggs +2 more
exaly +2 more sources
Stem Cell Research, 2023 Centronuclear myopathies (CNMs) are a group of inherited rare muscle disorders characterised by the abnormal position of the nucleus in the center of the muscle fiber.
Francesco Saverio Tedesco +2 more
exaly +3 more sources
Orphanet Journal of Rare DiseasesBackground X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital disease, which is not well-defined. To our knowledge, no studies characterizing the XLMTM disease burden have been conducted in Brazil.
Marcondes C França +2 more
exaly +2 more sources
JCI InsightX-linked myotubular myopathy (XLMTM) is a rare genetic disorder that typically presents at birth with progressive muscle weakness and respiratory difficulties and is caused by myotubularin 1 (MTM1) gene mutations.
Emanuele Perola
exaly +2 more sources
Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy [PDF]
Annals of Child Neurology, 2022 Purpose X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 (MTM1) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending on age and acquired ...
Hyewon Woo +10 more
doaj +1 more source
Structural rationale to understand the effect of disease-associated mutations on Myotubularin
Current Research in Structural Biology, 2023 Myotubularin or MTM1 is a lipid phosphatase that regulates vesicular trafficking in the cell. The MTM1 gene is mutated in a severe form of muscular disease, X-linked myotubular myopathy or XLMTM, affecting 1 in 50,000 newborn males worldwide.
Teerna Bhattacharyya +4 more
doaj +1 more source
Natural history of a mouse model of X-linked myotubular myopathy
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 +1 more source
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
doaj +1 more source
Disease Models & Mechanisms, 2020 Skeletal muscle development and regeneration are tightly regulated processes. How the intracellular organization of muscle fibers is achieved during these steps is unclear. Here, we focus on the cellular and physiological roles of amphiphysin 2 (BIN1), a
Ivana Prokic +18 more
doaj +1 more source