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Source: Neuromuscular Disorders
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Total 1514 results found since Jan 2013.
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
O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy
Myotubular myopathy (XLMTM) is a severe congenital disease that affects skeletal musculature, which is characterized by the presence of small myofibers with frequent occurrence of central nuclei. The disease is due to mutations in the MTM1 gene, encoding a phosphoinositide phosphatase named myotubularin, and specific treatment is currently unavailable. We have previously demonstrated the efficacy of local administration of AAV vectors carrying the Mtm1 cDNA to treat the disease, and have more recently extended these studies to the whole body. In order to express MTM1 preferentially in skeletal muscles after systemic gene d...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: R. Joubert, C. Moal, A. Vignaud, S. Martin, I. Richard, P. Moullier, A.H. Beggs, M.K. Childers, F. Mavilio, A. Buj-Bello Source Type: research
P.4.3 Intravenous infusion of AAV8–MTM1 prolongs life and ameliorates severe muscle pathology in mouse and dog models of X-linked myotubular myopathy
Mutations in the myotubularin gene (MTM1) result in X-linked myotubular myopathy (XLMTM), a fatal pediatric disease of skeletal muscle characterized by small myofibers with frequent central nuclei and abnormal mitochondrial accumulations. Patients with XLMTM typically present with severe hypotonia, muscle weakness and respiratory failure. Previous local studies in Mtm1-mutant mice demonstrated potential efficacy of gene therapy to treat the disease. Here we report long-term survival data in mice and dogs following intravenous delivery of an adeno-associated virus serotype 8 (AAV8) vector expressing myotubularin under the m...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: M.K. Childers, R. Joubert, K. Poulard, M.N. Holder, R.W. Grange, J. Doering, M.W. Lawlor, C. Moal, T. Jamet, N. Danièle, C. Martin, C. Rivière, K. Poppante, T. Soker, C. Hammer, L. Van Wittenberghe, X. Guan, M. Goddard, E. Mitchell, J. Barber, M.E. Furt Source Type: research
O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy
Myotubular myopathy (XLMTM) is a severe congenital disease that affects skeletal musculature, which is characterized by the presence of small myofibers with frequent occurrence of central nuclei. The disease is due to mutations in the MTM1 gene, encoding a phosphoinositide phosphatase named myotubularin, and specific treatment is currently unavailable. We have previously demonstrated the efficacy of local administration of AAV vectors carrying the Mtm1 cDNA to treat the disease, and have more recently extended these studies to the whole body. In order to express MTM1 preferentially in skeletal muscles after systemic gene d...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: R. Joubert, C. Moal, A. Vignaud, S. Martin, I. Richard, P. Moullier, A.H. Beggs, M.K. Childers, F. Mavilio, A. Buj-Bello Source Type: research
P.4.3 Intravenous infusion of AAV8–MTM1 prolongs life and ameliorates severe muscle pathology in mouse and dog models of X-linked myotubular myopathy
Mutations in the myotubularin gene (MTM1) result in X-linked myotubular myopathy (XLMTM), a fatal pediatric disease of skeletal muscle characterized by small myofibers with frequent central nuclei and abnormal mitochondrial accumulations. Patients with XLMTM typically present with severe hypotonia, muscle weakness and respiratory failure. Previous local studies in Mtm1-mutant mice demonstrated potential efficacy of gene therapy to treat the disease. Here we report long-term survival data in mice and dogs following intravenous delivery of an adeno-associated virus serotype 8 (AAV8) vector expressing myotubularin under the m...
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: M.K. Childers, R. Joubert, K. Poulard, M.N. Holder, R.W. Grange, J. Doering, M.W. Lawlor, C. Moal, T. Jamet, N. Danièle, C. Martin, C. Rivière, K. Poppante, T. Soker, C. Hammer, L. Van Wittenberghe, X. Guan, M. Goddard, E. Mitchell, J. Barber, M.E. Furt Source Type: research
Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: A case report
We report a 5-year-old boy with X-linked myotubular myopathy complicated by peliosis hepatis. At birth, he was affected with marked generalized muscle hypotonia and weakness, which required permanent ventilatory support, and was bedridden for life. He died of acute fatal hepatic hemorrhage after using a mechanical in-exsufflator. Peliosis hepatis, defined as multiple, variable-sized, cystic blood-filled spaces through the liver parenchyma, was confirmed by autopsy. To avoid fatal hepatic hemorrhage by peliosis hepatis, routine hepatic function tests and abdominal imaging tests should be performed for patients with X-linked...
Source: Neuromuscular Disorders - September 6, 2013 Category: Neurology Authors: T. Motoki, M. Fukuda, T. Nakano, S. Matsukage, A. Fukui, S. Akiyoshi, Y.K. Hayashi, E. Ishii, I. Nishino Tags: Research papers Source Type: research
Muscle from a 20-week-old myotubular myopathy fetus is not myotubular.
A male fetus, whose brother had been clinicopathologically and genetically confirmed to have X-linked myotubular myopathy (XLMTM), was aborted at 20 weeks of gestation after a series of genetic-counseling sessions and confirmation of the c.226G>T [p.E76X] MTM1 mutation, which was the same as the brother's, in genomic DNA from amniocentesis. Pathognomonic myotubular features, including peripheral halo and centralized myonuclei, were prominent in muscle from the 16-month-old brother (Figure 1A and B).
Source: Neuromuscular Disorders - December 3, 2015 Category: Neurology Authors: Kohei Hamanaka, Ikuhiro Inami, Takahito Wada, Satomi Mitsuhashi, Satoru Noguchi, Yukiko K Hayashi, Ichizo Nishino Tags: Picture of the Month Source Type: research
Muscle from a 20-week-old myotubular myopathy fetus is not myotubular
A male fetus, whose brother had been clinicopathologically and genetically confirmed to have X-linked myotubular myopathy (XLMTM), was aborted at 20 weeks of gestation after a series of genetic counseling sessions and confirmation of the c.226G>T [p.E76X] MTM1 mutation, which was the same as the brother's, in genomic DNA from amniocentesis. Pathognomonic myotubular features, including peripheral halo and centralized myonuclei, were prominent in muscle from the 16-month-old brother (Fig. 1A and B).
Source: Neuromuscular Disorders - December 3, 2015 Category: Neurology Authors: Kohei Hamanaka, Ikuhiro Inami, Takahito Wada, Satomi Mitsuhashi, Satoru Noguchi, Yukiko K. Hayashi, Ichizo Nishino Tags: Picture of the Month Source Type: research
P.106Mutation-specific therapy for X-linked myotubular myopathy
X-linked myotubular myopathy (XLMTM) is a severe congenital myopathy due to mutations in MTM1 encoding a 3-phosphoinositides phosphatase myotubularin. XLMTM patients display severe generalized hypotonia at birth accompanied by respiratory insufficiency and pathologically show small-size fibers with peripheral halo, centrally located nuclei, disorganized perinuclear organelles in the muscle. Among 78 patients with pathologically diagnosed as XLMTM in our cohort, causative mutations were not identified in 20 cases by targeted re-sequencing panel for congenital myopathy, MTM1 Sanger sequencing nor Whole-exome sequencing.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: S. Hayashi, S. Noguchi, T. Kumutpongpanich, A. Iida, M. Okubo, M. Matsuo, I. Nishino Source Type: research
P.4.1 PIP kinases, muscle development, and the pathogenesis of myotubular myopathy
Myotubular myopathy (MTM) is a severe congenital myopathy with no currently identified treatment. MTM is caused by mutations in MTM1, a phosphatase that dephosphorylates 3-position phosphoinositides. Through the use of vertebrate model systems, the consequences (s) of MTM1 mutation in skeletal muscle in vivo are beginning to be unraveled. In particular, work from several laboratories (including our own) has demonstrated that loss of MTM1 (1) increases the levels of PI3P in skeletal muscle and (2) results in the disruption of the structure and function of the EC coupling apparatus. Based on these data, one hypothesis to exp...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: A. Reifler, D. Michele, A. Archambeau, X. Li, J.J. Dowling Source Type: research
198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May – 2nd June 2013, Naarden, The Netherlands
Sixteen clinicians and basic scientists from 4 countries convened from the 31st of May to the 2nd of June 2013 in Naarden, The Netherlands, for the 198th ENMC sponsored Workshop on Centronuclear/Myotubular myopathies (CNM/MTM). The workshop was also attended by Anne Lennox and Melanie Spring as representatives of the Myotubular Trust, a European patient support group for patients affected by myotubular (centronuclear) myopathies, and by Hal Landy, Deborah Ramsdell and Matthew Patterson, representatives of 2 industry partners, Valerion and Audentes Therapeutics, with an interest in developing specific therapies for CNM/MTM.
Source: Neuromuscular Disorders - September 26, 2013 Category: Neurology Authors: Heinz Jungbluth, Carina Wallgren-Pettersson, Jocelyn F. Laporte, on behalf of the Centronuclear (Myotubular) myopathy Consortium Tags: Workshop reports Source Type: research
G.P.39: An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathy
We present here a prospective study of the pathophysiology of XLMTM to characterize the disease course by using standardized evaluations. A total of 60 patients with XLMTM, male or symptomatic female of any age, are planned to be enrolled in North America and Europe. Visit frequency and assessments are adjusted to age, ambulatory and respiratory status. Evaluations include standard liver ultrasound, clinical exam, ophthalmoplegia assessment, pulmonary function tests, strength and motor function assessment by using upper limb-specific devices and common scales, six-minute walk test, activity monitoring using the Actimyo dev...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: M. Annoussamy, H. Landy, D. Ramsdell, M. Nelken, F. Muntoni, C. Bönnemann, D. Bharucha, J.J. Dowling, K. Amburgey, C. Lilien, G. Ollivier, J. Laporte, V. Biancalana, U. Schara, J.M. Cuisset, A. D’Amico, N. Deconinck, P.Y. Jeannet, A. Klein, J. Fluss, M Source Type: research
