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Total 11221 results found since Jan 2013.

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene
Conclusions: Here we describe a second pathogenic mutation in MTM1 causing X-linked myotubular myopathy in dogs. Our findings suggest a variety of MTM1 mutations in dogs as seen in human patients. The number of MTM1 mutations resulting in similar severe and progressive clinical myopathy and histopathological changes are likely to increase as canine myopathies are further characterized.
Source: Skeletal Muscle - January 27, 2015 Category: Research Authors: G SheltonBranden RiderGeorgina ChildSophia TzannesLing GuoBehzad MoghadaszadehEmily TroianoBianca HaaseClaire WadeAlan Beggs Source Type: research

X-linked myotubular myopathy: a clinical report and a review of the mild phenotype
CONCLUSION: The presentation of a mild form of this myotubular myopathy, being less commonly reported, added challenge to the diagnosis. The combination of mild hypotonia, feeding difficulties and expressive language disorder should raise suspicion of a neuromuscular disease. There is a lack of verified motor or developmental scores specific to this myopathy to further determine prognosis and need of other therapies. While currently the severity myotubular myopathy is classified according to ventilator dependency, this may be insufficient and unapplicable to milder cases. There is an evident need for a grading system for m...
Source: Revista de Neurologia - March 28, 2023 Category: Neurology Authors: R Barreto-Mota J Figueirinha R Quental J Fonseca C Melo M Sampaio R Sousa Source Type: research

Large duplication in MTM1 associated with myotubular myopathy
We describe a boy with myotubular myopathy but without mutation in MTM1 by conventional sequencing. Array-CGH analysis of MTM1 uncovered a large MTM1 duplication. This finding suggests that at least some unresolved cases of myotubular myopathy are due to duplications in MTM1, and that array-CGH should be considered when MTM1 sequencing is unrevealing.
Source: Neuromuscular Disorders - February 23, 2013 Category: Neurology Authors: K. Amburgey, M.W. Lawlor, D. del Gaudio, Y.W. Cheng, C. Fitzpatrick, A. Minor, X. Li, D. Aughton, S. Das, A.H. Beggs, J.J. Dowling Tags: Research papers Source Type: research

P.4.2 MTMR2 ameliorates the phenotype of myotubular myopathy in mice
X-linked myotubular myopathy is the most severe form of centronuclear myopathy, a group of rare muscular diseases characterized by the presence of nuclei in central position of hypotrophic myofibres. Male patients present at birth with profound muscle hypotonia and weakness, respiratory insufficiency, and often die prematurely. The pathology is caused by mutations in the MTM1 gene. Myotubularin, the encoded protein, is a 3-phosphoinositide phosphatase founding a family of homologous proteins, the MTMRs (myotubularin-related-proteins). In order to develop a therapy for myotubular myopathy, we tested the ability of Mtmr1 and...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: N. Danièle, T. Jamet, C. Moal, R. Joubert, N. Messaddeq, M.W. Lawlor, A. Vignaud, A. Buj-Bello Source Type: research