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A Real-World Analysis of an XLMTM Patient Cohort From the MTM and CNM International Patient Registry

Arquivos De Neuro-Psiquiatria
Joanne Bullivant, Jess Page, Julie Coats
exaly   +2 more sources

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Improved Respiratory Outcomes for X-Linked Myotubular Myopathy (XLMTM) with Gene Replacement Therapy, Resamirigene Bilparvovec (ASPIRO): Preliminary Results from ASPIRO, a Phase 1/2/3 Study

B49. SLEEP, CHEST WALL, AND NEUROMUSCULAR - OH MY!, 2022
Astelas Gene Therapies.
Perez, GF, Shieh, P, Kuntz, N, Dowling, J, Mueller-Felber, W, Blaschek, A, Bonnemann, C, Foley, A, Saade, D, Seferian, A, Servais, L, Lawlor, M, MacBean, V, Coats, J, Han, C, Lee, J, Noursalehi, M, Prasad, S, Rico, S, Miller, W, Graham, R   +20 more
openaire   +2 more sources

Expression hémicorporelle d’une myopathie myotubulaire liée à l’X (XLMTM) chez deux des trois femmes conductrices d’une même famille sans cas masculin

Revue Neurologique, 2008
Resume Introduction La myopathie myotubulaire liee a l’X (XLMTM), causee par des mutations dans le gene de la myotubularine ( MTM1 ) est le plus souvent precocement severe chez les garcons, alors que les conductrices sont en general asymptomatiques.
A Drouét, N Streichenberger, P Petiot
exaly   +2 more sources

P.4.8 X-linked benign form of myotubular myopathy (XLMTM) with necklace fibres: A case report

Neuromuscular Disorders, 2013
X-linked myotubular myopathy (XLMTM) is usually a severe condition caused by mutations in myotubularin gen MTM1, (Xq28), a lipid inositide phosphatase acting in remodeling of membranes. Most of the affected patients present a severe neonatal form with hypotonia, weakness, facial diplegia, difficulties in sucking in addition to other symptoms dying ...
C. Ortez, A. Nascimento, C. Jou, C. Jimenez-Mallebrera, S. Paco, J. Corbera, V. Viancalana, J. Colomer   +7 more
openaire   +1 more source

Gait Characteristics in a Canine Model of X-Linked Myotubular Myopathy

Journal of the Neurological Sciences, 2014
International audienceX-linked myotubular myopathy (XLMTM) is a fatal pediatric disease where affected boys display profound weakness of the skeletal muscles.
Alan H. Beggs, Valerie E. Kelly, Martin K. Childers   +2 more
exaly   +2 more sources

1FC2.5 Recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene may mimick X-linked centronuclear (myotubular) myopathy (XLMTM)

European Journal of Paediatric Neurology, 2011
of nighttime BiPAP use in 45 patients at an average age of 11.34±4.28 years. Patients at the mildest end of the phenotypic spectrum did not demonstrate a clear pattern of decline in respiratory function. Conclusions: Forced vital capacity is a viable outcome measure for patients at the moderate to severe end of the collagen VI myopathy phenotypic ...
A.D. Gika, S. Lillis, T. Cullup, I. Bodi, P. Manta, R. Pons, E. Yatrakou, K. Karachristou, M. Tzeti, S. Youroukos, F. Muntoni, S. Abbs, H. Jungbluth   +12 more
openaire   +1 more source

[Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male].

Revue neurologique, 2008
X-linked myotubular myopathy (XLMTM), a recessive disorder, is caused by mutations affecting the myotubulatin (MTM1) gene located on the X chromosome. Most of the affected males die in the early postnatal period whereas female carriers are usually asymptomatic.We report a family in which two females (45 and 27 years old) in two different generations ...
A, Drouet, E, Ollagnon-Roman, N, Streichenberger, V, Biancalana, M, Cossée, L, Guilloton, P, Petiot   +6 more
openaire   +1 more source

OP018: ASPIRO gene therapy trial in X-Linked Myotubular Myopathy (XLMTM): Update on preliminary efficacy and safety findings

Genetics in Medicine, 2022
Perry Shieh, Nancy Kuntz, James Dowling, Wolfgang Müller-Felber, Carsten Bönnemann, Dimah Foley, Andreea Seferian, Laurent Servais, Michael Lawlor, Mojtaba Noursalehi, Suyash Prasad, Salvador Rico, Weston Miller   +12 more
openaire   +1 more source

P52 Experiences of parents/caregivers of children in the ASPIRO X-Linked myotubular myopathy (XLMTM) gene therapy clinical trial: a qualitative study

Neuromuscular Disorders, 2023
C. Juando-Prats, K. Hodwitz, N. Kenneally, L. Alfano, M. Sarazen, J. Coats   +5 more
openaire   +1 more source

High-throughput transcriptome analysis provides new indicators of gene therapy efficacy in XLMTM dogs

Neuromuscular Disorders, 2017
Dupont, J., Guo, J., Gray, J., Buj-Bello, A., Childers, M., Mack, D.   +5 more
openaire   +2 more sources