Results 51 to 60 of about 31,110 (115)

Myofibrillar myopathy hallmarks associated with ZAK deficiency [PDF]

, 2023
The ZAK gene encodes two functionally distinct kinases, ZAKα and ZAKβ. Homozygous loss of function mutations affecting both isoforms causes a congenital muscle disease.
Hamed, Mohamed F., Blanco, Gonzalo, Mohamed F Hamed, Simon Bekker-Jensen, Amy Stonadge, Russell, Alex, Bekker-Jensen, Simon, Pownall, Betsy, Hamed, Mohamed F, Gonzalo Blanco, Stonadge, Amy, Aitana V Genzor, Genzor, Aitana V., Gareth Evans, Mary Elizabeth Pownall, Genzor, Aitana V, Alex Russell, Norma Romero, Evans, Gareth, Romero, Norma   +19 more
core   +1 more source

Myofibrillar Myopathy with a Novel LDB3 Variant (c.1804T>C) in a Filipino Mother–Daughter Dyad: A Case Report

European Medical Journal
Myofibrillar myopathy (MFM) is a rare inherited neuromuscular disorder characterised by progressive muscle weakness with potential cardiac and respiratory involvement.
Mark Jenzen H. Trivilegio, Raymond L. Rosales   +1 more
doaj   +1 more source

Voltage‐gated potassium channels mediate thyroid hormone control of skeletal muscle excitability

The Journal of Physiology, EarlyView.
Abstract figure legend Thyroid hormone (TH)‐dependent remodelling of potassium (K+) channel networks regulates skeletal muscle (SkM) excitability. Triiodothyronine (T3), locally generated from thyroxine (T4) by type 2 deiodinase (D2), binds thyroid hormone receptors (TRα/β) and modulates transcription via thyroid response elements (TREs).
Annarita Nappi, Caterina Miro, Annunziata Gaetana Cicatiello, Ilaria Piccialli, Serena Sagliocchi, Lucia Acampora, Federica Restolfer, Rosa Sirica, Melania Murolo, Emery Di Cicco, Daniela Terracciano, Anna Pannaccione, Monica Dentice   +12 more
wiley   +1 more source

Genetic compensation prevents myopathy and heart failure in an in vivo model of Bag3 deficiency.

PLoS Genetics, 2020
Mutations in the molecular co-chaperone Bcl2-associated athanogene 3 (BAG3) are found to cause dilated cardiomyopathy (DCM), resulting in systolic dysfunction and heart failure, as well as myofibrillar myopathy (MFM), which is characterized by protein ...
Federica Diofano, Karolina Weinmann, Isabelle Schneider, Kevin D Thiessen, Wolfgang Rottbauer, Steffen Just   +5 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

Rare case of myofibrillar myopathy [PDF]

, 2014
Nowadays there is a wide and constantly enlarging group of diseases called myopathies, which cause progressive damage, primarily and mostly affecting muscles.
Aseeva, K. S., Лебедева, Д. И., Асеева, А. С., Белова, Е. В., Belova, Е. V., Lebedeva, D. I.   +5 more
core  

Phenotype-specific muscle proteomic profiling in titinopathies

Acta Neuropathologica Communications
Titinopathies are complex neuromuscular disorders with multiple phenotypes. The gene's size, comprising 364 exons, as well as the protein's size of 3.8 MDa and its extensive network of protein interactors, are key factors underlying this complexity ...
Aurélien Perrin, Marie-Rocio Casenave-Camgaston, Baptiste Rabillard, Fabrice Raynaud, Serge Urbach, Martial Seveno, Ana Maria Navarro, Anas Tendero-Baziou, Stephan Matecki, Claude Cancès, Julien Durigneux, Valérie Biancalana, Florence Petit, Céline Tard, Arnaud Molin, Manon Godin, Xénia Latypova, John Rendu, Médéric Jeanne, Raul Juntas Morales, Emmanuelle Salort-Campana, Annie Verschueren, Martin Krahn, Svetlana Gorokhova, Shahram Attarian, Guilhem Solé, Florence Esselin, Marie-Laure Martin-Négrier, Corinne Métay, Christian Jorgensen, Anne Bergougnoux, Michel Koenig, Mireille Cossée   +32 more
doaj   +1 more source

A Novel De Novo MTM1 Insertion Frameshift Variant Causes X‐Linked Myotubular Myopathy in a Chinese Female

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
A 24‐year‐old heterozygous woman presented with lifelong hypotonia and slowly progressive, asymmetric axial and limb‐girdle weakness with facial/ocular involvement and restrictive ventilatory impairment (FVC 53.12% predicted). Multimodal evaluation (EMG, muscle MRI, and whole‐exome sequencing [WES]) identified a de novo MTM1 frameshift variant ...
Lijun Chen, Yingxiao Bao, Gonglu Liu
wiley   +1 more source

BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age

, 2021
: Myofibrillar myopathies are a heterogeneous group of neuromuscular disorders characterized by degeneration of Z-disk, causing the disintegration of myofibrils.
Pini, Antonella, Giannotta, Melania, Nigro, Vincenzo, Ragni, Luca, Columbaro, Marta, Scarpini, Gaia, Valentino, Maria Lucia, Torella, Annalaura   +7 more
core   +2 more sources

Interactions Between E3 Ubiquitin Ligases and Deubiquitinases in AKT Regulation: Implications in Skeletal Muscle Homeostasis

Cell Biochemistry and Function, Volume 44, Issue 9, September 2026.
ABSTRACT AKT (protein kinase B, PKB) coordinates the balance between anabolic and catabolic signaling in skeletal muscle through distinct ubiquitin chain types. Some E3 ubiquitin ligases (E3s) and deubiquitinases (DUBs) form stable binary complexes via non‐catalytic interfaces, adding a regulatory layer unavailable to either enzyme alone.
Rajesh Dabur
wiley   +1 more source