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Total 4152 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

Arrhythmias in patients with X-linked myotubular myopathy
We report two clinical cases of XLMTM that started with severe sinus bradycardia or auriculoventricular block from the first days of life, with pathologic 24-hours Holter monitoring in both cases. A primary cardiac affection was excluded by electrophysiological studies and normal heart rate was recovered with proper respiratory support.DISCUSSION: These cases with sever bradyarrhythmia in a well know pathology such the XLMTM represents a nuance on the usual differential diagnostics of congenital myopathies.PMID:37466134 | DOI:10.33588/rn.7703.2022222
Source: Revista de Neurologia - July 19, 2023 Category: Neurology Authors: M Pons-Espinal J Clotet-Caba S Cesar-D íaz D Yubero-Siles Source Type: research

A Deep Intronic Variant Activates a Pseudoexon in the < b > < i > MTM1 < /i > < /b > Gene in a Family with X-Linked Myotubular Myopathy
We report a novel intronic variant in theMTM1 gene in 4 males in a family with severe X-linked myotubular myopathy. The A#x3e;G variant in deep intronic space activates a cryptic 5 ′ donor splice site resulting in the inclusion of a 48-bp pseudoexon into the matureMTM1 mRNA. The variant is present in all affected males, absent in unaffected males, and heterozygous in the mother of the affected males. The included intronic sequence contains a premature stop codon, and experiments using a translational inhibitor indicate that the mutant mRNAs undergo nonsense-mediated decay. We conclude that affected males produce no, or l...
Source: Molecular Syndromology - September 16, 2020 Category: Molecular Biology 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

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

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

Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study
X-linked myotubular myopathy (XLMTM) is a rare disease of the skeletal muscle due to mutations in the MTM1 gene. It affects approximately 1 in 50 000 male newborns. It is the most severe form of centronuclear myopathy and presents several degrees of phenotype severity. In preparation of clinical development of innovative medicines such as ERT or gene therapy and to choose adequate outcome measures, we set up an international natural history study. Here, we describe the first 6 patients enrolled in this protocol.
Source: Neuromuscular Disorders - September 11, 2015 Category: Neurology Authors: N. R'guiba, M. Annoussamy, R. Cardas, C. Lilien, G. Ollivier, F. Muntoni, C. Bönnemann, V. Biancalana, J. Cuisset, M. Mayer, H. Landy, D. Ramsdell, M. Nelken, A. Le Moing, T. Gidaro, F. Mingozzi, A. Buj-Bello, J.Y. Hogrel, T. Voit, L. Servais Source Type: research

A study of a cohort of X-linked myotubular myopathy at the clinical, histological and genetic level
Myotubular myopathy is a rare X-linked congenital myopathy characterized by marked neonatal hypotonia and respiratory insufficiency, facial and ocular involvement, and muscle biopsy with prominent central nuclei in the majority of muscle fibers. It is caused by mutations in the MTM1 gene, which codes for the phosphoinositides phosphatase myotubularin. In this work, we established and detailed a new cohort of six patients at the clinical, histological and genetic level.
Source: Pediatric Neurology - February 5, 2016 Category: Neurology Authors: Osorio Abath Neto, Marina Rodrigues e Silva, Cristiane de Araújo Martins, Acary de Souza Bulle Oliveira, Umbertina Conti Reed, Valérie Biancalana, João Bosco Pesquero, Jocelyn Laporte, Edmar Zanoteli Tags: Clinical Observations Source Type: research

A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels
Myotubular myopathy is a rare X-linked congenital myopathy characterized by marked neonatal hypotonia and respiratory insufficiency, facial and ocular involvement, and muscle biopsy with prominent central nuclei in the majority of muscle fibers. It is caused by mutations in MTM1, which codes for the phosphoinositides phosphatase myotubularin. In this work, we established and detailed a new cohort of six patients at the clinical, histologic, and genetic levels.
Source: Pediatric Neurology - February 5, 2016 Category: Neurology Authors: Osorio Abath Neto, Marina Rodrigues e Silva, Cristiane de Araújo Martins, Acary de Souza Bulle Oliveira, Umbertina Conti Reed, Valérie Biancalana, João Bosco Pesquero, Jocelyn Laporte, Edmar Zanoteli Tags: Clinical Observations Source Type: research