Results 41 to 50 of about 69,426 (175)

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

Synchrotron strain scanning for residual stress measurement in cold-drawn steel rods [PDF]

, 2011
Cold-drawn steel rods and wires retain significant residual stresses as a consequence of the manufacturing process. These residual stresses are known to be detrimental for the mechanical properties of the wires and their durability in aggressive ...
M Elices, J Ruiz-Hervias, Elices Calafat, Manuel, Ruiz Hervías, Jesús, Atienza Riera, José Miguel, J M Atienza   +5 more
core   +1 more source

Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report

BMC Musculoskeletal Disorders, 2019
Background Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies.
Matthias Türk, Armin M. Nagel, Frank Roemer, Ursula Schlötzer-Schrehardt, Christian T. Thiel, Martin Winterholler, Rolf Schröder   +6 more
doaj   +1 more source

TUBA4A Pathogenic Variant Manifesting With Adulthood‐Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility

European Journal of Neurology, Volume 33, Issue 9, September 2026.
ABSTRACT Objectives TUBA4A pathogenic variants are associated with ALS, frontotemporal dementia, spastic ataxia, spasticity, ataxia, Parkinson's disease, female infertility, macrothrombocytopenia, and myopathy. Four recently reported patients with TUBA4A neonatal/childhood onset myopathy had also a decrement on repetitive nerve stimulation (RNS), but ...
Margherita Milone, Stefan Nicolau, Zhiyv Niu, Teerin Liewluck, Eric J. Sorenson, Xin‐Ming Shen, C. Michael Harper, William J. Litchy   +7 more
wiley   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Immunofluorescence microscopy of a myopathy α-Actinin is a major constituent of nemaline rods [PDF]

, 1980
A biopsy of skeletal muscle taken from a child with the clinical symptoms of congenital nemaline myopathy was studied. Light and electron microscopy revealed rod-like structures within the muscle fibres, and thus confirmed the clinical diagnosis ...
Griffiths, G.W., Jockusch, B.M., Jennekens, F.G.I., Veldman, H., Oost, B.A. van   +4 more
core  

Nemaline myopathies: a current view [PDF]

, 2019
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. The genes encoding skeletal α-actin (ACTA1) and nebulin (NEB) are the commonest genetic cause.
Laitila, Jenni M., Wallgren-Pettersson, Carina, Sewry, Caroline A.   +2 more
core   +1 more source

Skeletal muscle‐specific myostatin overexpression promotes muscle oxidative capacity and fatigue resistance in transgenic mice

Experimental Physiology, Volume 111, Issue 7, Page 3357-3380, 1 July 2026.
Abstract In addition to controlling muscle mass, myostatin may support oxidative metabolism and endurance. Loss of function through gene knockout or post‐natal blockade generally lowers muscle oxidative capacity and increases fatigability. These observations imply that myostatin activation could promote a more oxidative and less fatigable muscle ...
Andy V. Khamoui, Andrea Abraham, Janos Porszasz, Istvan Kovanecz, Silvana Constantinescu, Harry B. Rossiter, Suzanne Reisz‐Porszasz   +6 more
wiley   +1 more source

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8) [PDF]

, 2016
International audienceNemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common
Forin, Veronique, Gidaro, Teresa, Seferian, Andreea M, Taytard, Jessica, Elena Gargaun, John Rendu, Edoardo Malfatti, Teresa Gidaro, Malfatti, Edoardo, Laurent Pelletier, Caroline Bosson, Andreea M. Seferian, Servais, Laurent, Romero, Norma B., Veronique Forin, Gargaun, Elena, Pierre Carlier, Rendu, John, Romero, Norma B, Julien Fauré, Seferian, Andreea M., Bosson, Caroline, Jessica Taytard, Laurent Servais, Pelletier, Laurent, Carlier, Pierre, Fauré, Julien, Norma B. Romero   +27 more
core   +1 more source