Results 51 to 60 of about 27,107 (181)

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

Congenital Myotubular Myopathy With a Novel MTM1 Gene Mutation in a Premature Infant Presenting With Ventilator Dependency and Intrahepatic Cholestasis

, 2011
Myotubular myopathy is a rare congenital disease characterized by hypotonia and respiratory compromise at birth in affected males. It causes high neonatal mortality. Most surviving newborns need prolonged ventilation and have significantly delayed motor
Jia-Yuh Chen, Yan-Yan Ng, Pen-Hua Su, Jui-Ming Hu, Jang-Jih Lu, Inn-Chi Lee   +5 more
core   +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

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

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

Acta Neuropathologica Communications, 2020
X-linked myotubular myopathy (XLMTM) is a life-threatening skeletal muscle disease caused by mutations in the MTM1 gene. XLMTM fibres display a population of nuclei mispositioned in the centre.
Jacob A. Ross, Hichem Tasfaout, Yotam Levy, Jennifer Morgan, Belinda S. Cowling, Jocelyn Laporte, Edmar Zanoteli, Norma B. Romero, Dawn A. Lowe, Heinz Jungbluth, Michael W. Lawlor, David L. Mack, Julien Ochala   +12 more
doaj   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, Volume 3, Issue 6, November 2025.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Muscle function in A canine model of X-linked myotubular myopathy

, 2012
International audienceWe established a colony of dogs that harbor an X-linked MTM1 missense mutation.Muscle from affected male dogs exhibits reduction and altered localization of the MTM1 gene product, myotubularin, and provides a model analogous to X ...
Holder, Melanie, Grange, Robert, Beggs, Alan, H., Beggs, Alan,, Goddard, Melissa, Childers, Martin, K., Mitchell, Erin, Doering, Jon, Guan, Xuan, Tegeler, Christopher, Childers, Martin,   +10 more
core   +1 more source

The role of microRNAs in X-linked myotubular myopathy [PDF]

, 2009
Tese de mestrado, Biologia (Bioplogia Humana e Ambiente), 2009, Universidade de Lisboa, Faculdade de CiênciasX-linked myotubular myopathy (XLMTM) is a congenital neuromuscular disorder characterized by profound hypotonia and severe skeletal muscle ...
Fontes, Mariana Miranda
core   +1 more source

OXPHOS complex deficiency in congenital myopathy: A systematic review

European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.
This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez, Maryke Schoonen, Monray E. Williams, Michelle Bisschoff, Francois H. van der Westhuizen   +4 more
wiley   +1 more source