Results 61 to 70 of about 15,356 (198)

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

PARMAKLARDA EKSTANSOR GÜÇ KAYBI İLE KLİNİĞE YANSIYAN BİR NEMALİN MİYOPATİ OLGUSU

Cerrahpaşa Medical Journal, 2014
Background.- Wide spectrum of genetic defects may lead to congenital myopathies. Thus, clinical features such as age of onset, distribution of weakness and other associating diseases, may very considerably.Diagnostic difficulties are encountered with ...
Şevki ŞAHİN, Mehmet AKALIN, Meral KIZILTAN   +2 more
doaj  

Nemaline Myopathy

Pediatric Neurology Briefs, 1988
A boy, 5 years of age, with nemaline myopathy complicated by respiratory failure and hypertrophic cardiomyopathy is reported from the Albany Medical College, Albany, NY.
openaire   +4 more sources

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

Congenital myopathies 1 – Nemaline

, 2020
Ovine congenital progressive muscular dystrophy (OCPMD) was first described in Merino sheep flocks in Queensland and Western Australia (WA) in the 1960s and 70s.
Conijn, S., Groth, D., Ravenscroft, G., Muthsam, K., Testa, A., Coote, D., Laing, N., Taylor, R., Goullee, H., O'Hara, M., Musk, G., Ottenheijm, C., McNamara, E., Nowak, K., Clayton, J., Kijas, J.   +15 more
core  

Congenital myopathies: diseases of the actin cytoskeleton

, 2004
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness ranging in severity. Three major forms have been identified: actin myopathy, intranuclear rod myopathy, and nemaline myopathy.
Clarkson, E, Costa, C, Machesky, Laura M., Clarkson, Emilie, Machesky, Laura, Costa, Celine F.   +5 more
core   +1 more source

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Goldfarb, Lev, Lochmueller, Hanns, Walter, Maggie C., Chinnery, Patrick F., Reilich, Peter, McNeill, Alisdair, Schramm, Nicolai, Straub, Volker   +8 more
core   +1 more source

Cullin-3 Dependent Deregulation of ACTN1 Represents a New Pathogenic Mechanism in Nemaline Myopathy [PDF]

, 2019
Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness, fiber atrophy, and presence of nemaline bodies within myofibers. However, understanding of the underlying pathomechanisms is lacking.
Blondelle, Jordan, Laitila, Jenni, Seto, Jane T., Seto, Jane, Lange, Stephan,, Tallapaka, Kavya, Lange, Stephan, Singer, Jeffrey D., Laitila, Jenni M., Bournazos, Adam, Ghassemian, Majid, Singer, Jeffrey, Clark, Madison   +12 more
core   +1 more source

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

Frontiers in Neurology
BackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations ...
Daniela Piga, Martina Rimoldi, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi, Stefania Corti, Stefania Corti   +17 more
doaj   +1 more source