Results 11 to 20 of about 3,537,976 (165)

Fine-tuning striated muscle performance: conserved sarcomere-level mechanisms across insect and vertebrate systems [PDF]

Frontiers in Physiology
Striated muscles exhibit remarkable structural and functional specialization that enables precise control of force production, contractile kinetics, and energetic efficiency. Although vertebrate skeletal and cardiac muscles have been extensively studied,
Hiroyoshi Matsui, Zach Chbihi, Rima Mashni, Haidar Hachem, Sarah Snider, Sarah Snider, Alyson Sujkowski, Alyson Sujkowski   +7 more
doaj   +2 more sources

Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy [PDF]

Annals of Child Neurology, 2022
Purpose X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 (MTM1) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending on age and acquired ...
Hyewon Woo, Seungbok Lee, Ji Yeon Han, Woo Joong Kim, Man Jin Kim, Moon-Woo Seong, Soo Yeon Kim, Anna Cho, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae   +10 more
doaj   +1 more source

Congenital myopathies: clinical phenotypes and new diagnostic tools [PDF]

, 2017
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course.
Anna Rubegni, Rosanna Trovato, Claudio Bruno, Carlo Minetti, Guja Astrea, Sara Lenzi, the Italian Network on Congenital Myopathies, Denise Cassandrini, Jacopo Baldacci, Chiara Fiorillo, Filippo M. Santorelli   +10 more
core   +5 more sources

Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Quantitative muscle MRI is increasingly used to assess structural muscle damage in inherited myopathies, but its application in primary mitochondrial myopathies (PMM) has not been systematically evaluated in large cohorts. Because PMM are clinically and genetically heterogeneous, objective imaging biomarkers are needed to quantify ...
Bermejo-Moriñigo A, Martín-Jiménez P, González-Méndez V, Bermejo-Guerrero L, Ochoa LE, Martín-Arriscado C, Alcalá-Galiano A, Casado-Pérez C, Navarro-Riquelme M, Garrido-Moraga R, González Quintana A, Blázquez A, Domínguez-González C.   +12 more
europepmc   +2 more sources

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy

Frontiers in Genetics, 2023
Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments.
Cristina Skrypnyk, Cristina Skrypnyk, Aseel Ahmed Husain, Hisham Y. Hassan, Jameel Ahmed, Abdulla Darwish, Latifa Almusalam, Noureddine Ben Khalaf, Fahad Al Qashar   +8 more
doaj   +1 more source

Identification of new dystroglycan complexes in skeletal muscle. [PDF]

PLoS ONE, 2013
The dystroglycan complex contains the transmembrane protein β-dystroglycan and its interacting extracellular mucin-like protein α-dystroglycan. In skeletal muscle fibers, the dystroglycan complex plays an important structural role by linking the ...
Eric K Johnson, Bin Li, Jung Hae Yoon, Kevin M Flanigan, Paul T Martin, James Ervasti, Federica Montanaro   +6 more
doaj   +1 more source

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset

eLife, 2023
Ubiquitin-proteasome system (UPS) dysfunction is associated with the pathology of a wide range of human diseases, including myopathies and muscular atrophy.
Arian Mansur, Remi Joseph, Euri S Kim, Pierre M Jean-Beltran, Namrata D Udeshi, Cadence Pearce, Hanjie Jiang, Reina Iwase, Miroslav P Milev, Hashem A Almousa, Elyshia McNamara, Jeffrey Widrick, Claudio Perez, Gianina Ravenscroft, Michael Sacher, Philip A Cole, Steven A Carr, Vandana A Gupta   +17 more
doaj   +1 more source

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

Biomolecules, 2021
Neuromuscular disorders (NMDs) are highly heterogenous from both an etiological and clinical point of view. Their signs and symptoms are often multisystemic, with frequent cardiac involvement.
Anwar Baban, Valentina Lodato, Giovanni Parlapiano, Corrado di Mambro, Rachele Adorisio, Enrico Silvio Bertini, Carlo Dionisi-Vici, Fabrizio Drago, Diego Martinelli   +8 more
doaj   +1 more source

Structural and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy [PDF]

, 2022
Abstract Mutations in skeletal muscle α-actin (Acta1) cause a variety of myopathies. In a mouse model of congenital myopathy, heterozygous Acta1 (H40Y) knock-in ( Acta1 + /Ki ) mice exhibit features of ...
Yun Liu, Weichun Lin
openaire   +1 more source

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation [PDF]

, 2013
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle ...
Rokach, O., Ruben Attali, Nevo, Y., Talya Dor, Fellig, Y., Straussberg Rachel, Rachel Straussberg, Aharoni S, TREVES, Susan Nella, Daana, M., Fellig Yakov, Becker Cohen Michal, Mitrani-Rosenbaum Stella, Attali R, Attali Ruben, Yoram Nevo, Rokach O, Attali, R., Dor, T., Becker Cohen M, Susan Treves, Mitrani-Rosenbaum, S., Fellig Y, Aharoni, S., Mitrani Rosenbaum S, Treves, S., Dor T, Nevo Yoram, Aharoni Sharon, Straussberg, R., Michal Becker Cohen, Dor Talya, Straussberg R, Becker Cohen, M., Ori Rokach, Muhannad Daana, Nevo Y., Treves Susan, Daana Muhannad, Stella Mitrani-Rosenbaum, Rokach Ori, Yakov Fellig, Daana M, Sharon Aharoni   +43 more
core   +2 more sources