Results 91 to 100 of about 7,553,951 (168)

Clinical Phenotype of X-Linked Myotubular Myopathy in Labrador Retriever Puppies

, 2020
Background: Seven male Labrador Retriever puppies from 3 different litters, born to clinically normal dams and sires, were evaluated for progressive weakness and muscle atrophy.
M Van Der Kooij, S M Taylor, E C R Snead, A H Beggs, G D Shelton, K Cosford   +5 more
core  

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy

, 1998
International audienceX-linked recessive myotubular myopathy (XLMTM) is a very severe congenital muscular disease characterised by an impaired maturation of muscle fibres, and caused by defects in the MTM1 gene. This gene defines a new family of putative
Blondeau, François, Serge Vicaire, Tanner, Stephan M., Hu, Ling-Jia, Christophe Guiraud-Chaumeil, Liechti-Gallati, Sabina, Sabina Liechti-Gallati, Mandel, Jean-Louis, François Blondeau, Laporte, Jocelyn, Guiraud-Chaumeil, Christophe, Stephan M Tanner, Ling-Jia Hu, Vicaire, Sabrina, Jocelyn Laporte, Jean-Louis Mandel   +15 more
core   +1 more source

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. [PDF]

Acta Neuropathol, 2022
Volpatti JR, Ghahramani-Seno MM, Mansat M, Sabha N, Sarikaya E, Goodman SJ, Chater-Diehl E, Celik A, Pannia E, Froment C, Combes-Soia L, Maani N, Yuki KE, Chicanne G, Uusküla-Reimand L, Monis S, Alvi SA, Genetti CA, Payrastre B, Beggs AH, Bonnemann CG, Muntoni F, Wilson MD, Weksberg R, Viaud J, Dowling JJ.   +25 more
europepmc   +1 more source

The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies

, 1995
Clinical differences exist between the three forms of myotubular myopathy. They differ regarding age at onset, severity of the disease, and prognosis, and also regarding some of the clinical characteristics. The autosomal dominant form mostly has a later
Moser, H., Barth, P. G., Clarke, Angus John, Dubowitz, V., Samson, F., Barohn, R. J., Fardeau, M., Wallgren-Pettersson, C., Grimm, T.   +8 more
core   +1 more source

High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy. [PDF]

Am J Hum Genet, 2023
Andreoletti G, Romano O, Chou HJ, Sefid-Dashti MJ, Grilli A, Chen C, Lakshman N, Purushothaman P, Varfaj F, Mavilio F, Bicciato S, Urbinati F.   +11 more
europepmc   +1 more source

X-linked myotubular myopathy: A brief update

, 2021
X-linked myotubular myopathy, included in the centronuclear myopathies (CNM), is a severe congenital disorder caused by mutations of the gene MTM1. With a recessive hereditary pattern linked to the X chromosome, this disorder shows a varied symptomatology and a specific histopathological pattern.
openaire   +1 more source

Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male

, 2017
X-linked recessive myotubular myopathy (XLMTM) is a disorder associated with mutations in the myotubularin gene (MTM1) that usually affects boys, with transmission of the mutated allele from the mother.
Mar Tulinius, Tulinius, Mar,, Oldfors, Anders,, Carola Hedberg-Oldfors, Oldfors Hedberg, Carola,, Kittichate Visuttijai, Anders Oldfors, Alexandra Topa, Visuttijai, Kittichate,   +8 more
core   +1 more source

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study. [PDF]

Neurology, 2021
Reumers SFI, Braun F, Spillane JE, Spillane JE, Böhm J, Pennings M, Schouten M, van der Kooi AJ, Foley AR, Bönnemann CG, Kamsteeg EJ, Erasmus CE, Schara-Schmidt U, Jungbluth H, Voermans NC.   +14 more
europepmc   +1 more source

Genetic Linkage Heterogeneity in Myotubular Myopathy

, 1970
International audienceMyotubular myopathy is a severe congenital disease inherited as an X-linked trait (MTM1; McKusick 31040). It has been mapped to the long arm of chromosome X, to the Xq27-28 region.
Mercadier, J., Mandel, Jean-Louis, Junien, C., Heimburger, M., Chevallay, M., Pelissier, J., Samson, F., Hanauer, André, Feingold, N., Mesnard, L., Fardeau, M.   +10 more
core  

INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. [PDF]

J Neuromuscul Dis, 2022
Dowling JJ, Müller-Felber W, Smith BK, Bönnemann CG, Kuntz NL, Muntoni F, Servais L, Alfano LN, Beggs AH, Bilder DA, Blaschek A, Duong T, Graham RJ, Jain M, Lawlor MW, Lee J, Coats J, Lilien C, Lowes LP, MacBean V, Neuhaus S, Noursalehi M, Pitts T, Finlay C, Christensen S, Rafferty G, Seferian AM, Tsuchiya E, James ES, Miller W, Sepulveda B, Vila MC, Prasad S, Rico S, Shieh PB, INCEPTUS investigators.   +35 more
europepmc   +1 more source