Results 51 to 60 of about 7,553,951 (168)

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

Genetic and Pharmacologic Inhibition of Myostatin Restores Muscle Mass in a Dynamin 2‐Related Centronuclear Myopathy Mouse Model

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Autosomal dominant centronuclear myopathy (ADCNM), most commonly caused by mutations in the dynamin 2 (DNM2) gene, is a rare congenital myopathy characterized by progressive muscle weakness and atrophy. Myostatin, a key negative regulator of skeletal muscle mass, has shown therapeutic potential in several models of neuromuscular ...
Durieux Anne‐Cécile, Arnould David, Velarde Mathias, Allibert Valentine, Paret Chloé, Debelley Quentin, Kizilkilic Esra, Chambon Sidney, Girard Emmanuelle, Collin Louise, Gensel Alexandre, Castells Josiane, Pasternack Aja, Bowen Maximilien, Morel Baptiste, Hourdé Christophe, Laurent Schaeffer, Ritvos Olli, Bitoun Marc, Mounier Rémi, Freyssenet Damien   +20 more
wiley   +1 more source

Natural history of six neonates with severe MTM1-related X-linked myotubular myopathy [PDF]

Linchuang erke zazhi
Objective X-linked myotubular myopathy (XLMTM) caused by MTM1 gene variation is a rare neuromuscular disease. Currently, the systematic summary of the early natural history and diagnostic clinical characteristics of XLMTM patients in China is still ...
HU Xiangsong, LIN Yating, ZHU Tianwen
doaj   +1 more source

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene [PDF]

, 2015
Background: Congenital and inherited myopathies in dogs are faithful models of human muscle diseases and are being recognized with increasing frequency.
Moghadaszadeh, Behzad, G Shelton, Emily C Troiano, Sophia Tzannes, Child, Georgina, Branden E Rider, Ling T Guo, Behzad Moghadaszadeh, Bianca Haase, Beggs, Alan, Troiano, Emily C, Guo, Ling T, Alan H Beggs, Wade, Claire M, Shelton, G Diane, Claire M Wade, Rider, Branden E, Georgina Child, Tzannes, Sophia, Haase, Bianca   +19 more
core   +1 more source

Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

Orphanet Journal of Rare Diseases, 2021
Background X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require ...
Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni, Enrico Bertini   +10 more
doaj   +1 more source

Safety considerations of gene‐based therapies for Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Gene‐based therapies show increasing promise for the treatment of neurologic disease. In 2016, nusinersen, an RNA‐based therapy, was approved for children with spinal muscular atrophy (SMA). Over 200 clinical trials have utilized gene therapy approaches for a host of neurodegenerative and neuromuscular disorders, including Alzheimer's disease (
Elizabeth A. Bevins, Gabriel C. Léger, Michelle A. Herman, John M. Ringman, Subhojit Roy, Matthew Shtrahman, Judy Pa, Howard H. Feldman   +7 more
wiley   +1 more source

X-linked myotubular myopathy in a family of two infant siblings: A case report and review

Pediatrics and Neonatology
X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation.
Amelia Suan-Lin Koe, Yee Yin Tan, Shrenik Vora   +2 more
doaj   +1 more source

PI3KC2β depletion rescues endosomal trafficking defects in Mtm1 knockout skeletal muscle cells

Journal of Lipid Research
Phosphoinositides constitute a class of seven phospholipids found in cell membranes, regulating various cellular processes like trafficking and signaling.
Mélanie Mansat, Afi Oportune Kpotor, Anne Mazars, Gaëtan Chicanne, Bernard Payrastre, Julien Viaud   +5 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, Volume 99, Issue 2, Page 382-392, February 2026.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source