Results 41 to 50 of about 25,797 (180)

A novel mutation in MTM1 gene in newborn, resulting in centronuclear myopathy phenotype: a case report

Egyptian Journal of Medical Human Genetics, 2021
Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient from Neonatal
Aleksandra Dudzik, Weronika Nedza, Katarzyna Końska, Katarzyna Starzec, Tomasz Tomasik, Andrzej Grudzień, Mateusz Jagła, Wojciech Durlak, Przemko Kwinta   +8 more
doaj   +1 more source

Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing

Molecular Therapy: Nucleic Acids, 2016
Dynamin 2 (DNM2) is a large GTPase, ubiquitously expressed, involved in membrane trafficking and regulation of actin and microtubule cytoskeletons.
Delphine Trochet, Bernard Prudhon, Arnaud Jollet, Stéphanie Lorain, Marc Bitoun   +4 more
doaj   +1 more source

Respiratory features of centronuclear myopathy in the Netherlands [PDF]

Neuromuscular Disorders, 2023
Centronuclear myopathy (CNM) is a heterogeneous group of muscle disorders primarily characterized by muscle weakness and variable degrees of respiratory dysfunction caused by mutations in MTM1, DNM2, RYR1, TTN and BIN1. X-linked myotubular myopathy has been the focus of recent natural history studies and clinical trials.
Bouma, Sietse, Cobben, N., Bouman, K., Gaytant, M., Biggelaar, R. van de, Doorn, J.L.M., Reumers, S.F.I., Voet, N.B.M., Doorduin, J., Erasmus, C.E., Kamsteeg, E.J., Jungbluth, H., Wijkstra, P., Voermans, N.C.   +13 more
openaire   +4 more sources

Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset Miopatia centronuclear: aspectos histopatológicos em dez pacientes com a forma clínica de início na infância

Arquivos de Neuro-Psiquiatria, 1998
Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; and adult onset.
EDMAR ZANOTELI, ACARY SOUZA BULLE OLIVEIRA, BEATRIZ HITOMI KIYOMOTO, BENY SCHMIDT, ALBERTO ALAIN GABBAI   +4 more
doaj   +1 more source

Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM)

Stem Cell Research, 2023
Centronuclear myopathies (CNMs) are a group of inherited rare muscle disorders characterised by the abnormal position of the nucleus in the center of the muscle fiber.
Liani G. Devito, Valentina M. Lionello, Francesco Muntoni, Francesco Saverio Tedesco, Lyn Healy   +4 more
doaj   +1 more source

X‐linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat

Journal of Veterinary Internal Medicine, 2022
Objective Describe the clinical course and diagnostic and genetic findings in a cat with X‐linked myotubular myopathy. Case Summary A 7‐month‐old male Maine coon was evaluated for progressively worsening gait abnormalities and generalized weakness ...
Matthew A. Kopke, G. Diane Shelton, Leslie A. Lyons, Meredith J. Wall, Sarah Pemberton, Kristene R. Gedye, Rebecca Owen, Ling T. Guo, Reuben M. Buckley, Juan A. Valencia, 99 Lives Consortium, Boyd R. Jones   +11 more
doaj   +1 more source

Phosphatase-dead myotubularin ameliorates X-linked centronuclear myopathy phenotypes in mice. [PDF]

PLoS Genetics, 2012
Myotubularin MTM1 is a phosphoinositide (PPIn) 3-phosphatase mutated in X-linked centronuclear myopathy (XLCNM; myotubular myopathy). We investigated the involvement of MTM1 enzymatic activity on XLCNM phenotypes.
Leonela Amoasii, Dimitri L Bertazzi, Hélène Tronchère, Karim Hnia, Gaëtan Chicanne, Bruno Rinaldi, Belinda S Cowling, Arnaud Ferry, Bruno Klaholz, Bernard Payrastre, Jocelyn Laporte, Sylvie Friant   +11 more
doaj   +1 more source

Mutations in dynamin 2 cause dominant centronuclear myopathy

, 2005
International audienceAutosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular weakness. In 11 families affected by centronuclear myopathy, we identified recurrent and de novo missense
Lacène, Emmanuelle, Beggs, Alan H., Beggs, Alan,, Eymard, B., Jeannet, Pierre-Yves, Xavier Ferrer, Pascale Guicheney, Lacene, E., Romero, Norma,, Guicheney, Pascale, Beggs, A. H., Ferrer, Xavier, Fardeau, Michel, Jeannet, P. Y., Romero, Norma, Beatriz, Fardeau, M., Maugenre, Svetlana, Jean-Jacques Martin, Maugenre, S., Michel Fardeau, Ferrer, X., Laforêt, Pascal, Pierre-Yves Jeannet, Bitoun, Marc, Alan H Beggs, Romero, N. B., Laporte, J., Lochm\ufcller, Hanns, Hanns Lochmüller, Marc Bitoun, Martin, J. J., Bruno Eymard, Eymard, Bruno, Norma B Romero, Lochmuller, H., Guicheney, P., Romero, Norma B., Jocelyn Laporte, Laf\uf4ret, Pascal, Lochmuller, Hanns, Emmanuelle Lacène, Lac\ue8ne, Emanuelle, Martin, Jean-Jacques, Bitoun, M., Beggs, Alan, H., Laporte, Jocelyn, Pascal Laforêt, Laforet, P., Svetlana Maugenre   +48 more
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Respiratory assessment in centronuclear myopathies [PDF]

Muscle & Nerve, 2014
ABSTRACTThe centronuclear myopathies (CNMs) are a group of inherited neuromuscular disorders classified as congenital myopathies. While several causative genes have been identified, some patients do not harbor any of the currently known mutations. These diverse disorders have common histological features, which include a high proportion of centrally ...
Smith, Barbara, Goddard, Melissa, Childers, Martin   +2 more
openaire   +2 more sources

Dynamin 2 Mutations Cause Sporadic Centronuclear Myopathy with Neonatal Onset [PDF]

, 2007
We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively improved.
Maugenre, Svetlana, Uro-Coste, Emmanuelle, Bevilacqua, Jorge, Mayer, Michèle, Bevilacqua, Jorge, Alfredo, Cances, Claude, Taratuto, Ana Lia, Bevilacqua, Jorge,, Romero, Norma Beatriz, Romero, Norma,, Bitoun, Marc, Monges, Soledad, Guicheney, Pascale, Fardeau, Michel, Prudhon, Bernard, Lubieniecki, Fabiana, Romero, Norma, Beatriz   +16 more
core   +1 more source