Results 121 to 130 of about 38,417 (217)

Shear Wave Elastography to Assess Respiratory Muscle Function in Congenital Myopathies

Muscle &Nerve, Volume 74, Issue 1, Page 103-110, July 2026.
ABSTRACT Introduction/Aims Respiratory muscle dysfunction is prevalent in congenital myopathies and often leads to respiratory failure. Ultrasound shear wave elastography (SWE) measures tissue elasticity and has been proposed as an alternative to invasive measures of respiratory muscle contractility.
J. L. M. van Doorn, D. Jans, C. L. de Korte, B. G. M. van Engelen, N. C. Voermans, N. van Alfen, C. A. C. Ottenheijm, D. Bachasson, J. Doorduin   +8 more
wiley   +1 more source

Cellular and Molecular Mechanisms Underlying Congenital Myopathy-related Weakness

, 2014
Congenital myopathies are a rare and heterogeneous group of diseases. They are primarily characterised by skeletal muscle weakness and disease-specific pathological features.
Lindqvist, Johan
core  

Myotubular/centronuclear myopathy and central core disease

, 2010
The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones.
Fujimura-Kiyono, Chieko, Racz, Gabor Z., Nishino, Ichizo   +2 more
core   +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

Minipolymyoclonus in congenital nemaline myopathy: a nonspecific clinical marker of neurogenic dysfunction

, 1991
The authors report a seven-month-old boy with severe hypotonia, poor spontaneous movements, breathing difficulties and recurrent respiratory infections, dysmorphisms and a peculiar movement disorder: minipolymyoclonus (MPM), previously reported only in ...
DALLA BERNARDINA, Bernardo, Simeone M., TOMELLERI, Giuliano, Colamaria V., Orrico D., Zanetti R., Dordi B.   +6 more
core   +1 more source

Malignant Hyperthermia in Sweden: Clinical Presentations and Genetic Findings

Acta Anaesthesiologica Scandinavica, Volume 70, Issue 6, July 2026.
ABSTRACT Introduction Malignant hyperthermia (MH) is a pharmacogenetic, hypermetabolic and potentially lethal reaction to potent volatile anaesthetics and the muscle relaxant succinylcholine. To improve the understanding of MH, the aim of this retrospective study was to describe the Swedish cohort with respect to clinical manifestations, demographics ...
Anna Hellblom, Maria Soller, Carolina Samuelsson   +2 more
wiley   +1 more source

Whole exome sequencing in patients with congenital myopathy

, 2014
Introduction: Congenital myopathies (CM) are a heterogeneous group of muscle diseases presenting at birth or early infancy, characterised by muscle weakness and specific morphological changes in the muscle biopsy.
Johann Haukur Sigurðsson (563770), Irina Zaharieva (563720), Francesco Muntoni (228210), Rahul Phadke (435623), Caroline A. Sewry (337771), Jennifer E. Morgan (205557), Maria Sframeli (563769), Lucy Feng (435622), Irene Colombo (563768)   +8 more
core   +1 more source

Myosin Post‐Translational Modifications Associated With Critical Illness Myopathy

Acta Physiologica, Volume 242, Issue 7, July 2026.
ABSTRACT Background Critical illness myopathy is a common and devastating consequence of critical care, causing dramatic loss of muscle mass and function in intensive care unit patients. Functional deficits often exceed the loss in muscle mass and myosin content.
Fernando Ribeiro, Bruno Di Geronimo, Nicola Cacciani, Anna Widgren, Yvette Hedström, Anselmo S. Moriscot, Peter M. Kasson, Shina C. L. Kamerlin, Jonas Bergquist, Lars Larsson   +9 more
wiley   +1 more source

A muscular dystrophy associated with bi‐allelic LEMD2 variants: Expanding the genotype of nuclear envelopathies

Brain Pathology, Volume 36, Issue 4, July 2026.
Proteomics‐guided exome re‐analysis identifies bi‐allelic variants in the nuclear envelope LEMD2 gene, expanding its phenotypic spectrum. Created in BioRender. Pauper, M. (2026) https://BioRender.com/xamvo92.
Marc Pauper, Heike Kölbel, Iakowos Karakesisoglou, Anne Schänzer, Johann Böhm, Rachel Thompson, Nicolai Kohlschmidt, Bernd Ringel, Gisèle Bonne, Katja Neuhoff, Andrea Gangfuß, Ozge Aksel Kilicarslan, Sergi Beltran Agullo, Andreas Hentschel, Ulrike Schara‐Schmidt, Hanns Lochmüller, Kiran Polavarapu, Andreas Roos   +17 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