Results 61 to 70 of about 1,662 (201)

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

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: 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

Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores [PDF]

, 2020
ACTA1 gene encodes the skeletal muscle alpha-actin, the core of thin filaments of the sarcomere. ACTA1 mutations are responsible of several muscle disorders including nemaline, cores, actin aggregate myopathies and fiber-type disproportion.
Ottenheijm C., Fattori F., Stoppacciaro A., Merlonghi G., Bucci E., Fionda L., Bertini E. S., Morino S., Micaloni A., Zierikzee M., Antonini G., Leonardi L., Vanoli F., Uijterwijk B., Salvetti M., Raffa S., Pennisi E. M., Garibaldi M., Tartaglione T.   +18 more
core   +1 more source

Congenital myopathies: not only a paediatric topic [PDF]

, 2016
Contains fulltext : 167683.pdf (Publisher’s version ) (Open Access)PURPOSE OF REVIEW: This article reviews adult presentations of the major congenital myopathies - central core disease, multiminicore disease, centronuclear myopathy and ...
Jungbluth, Heinz; id_orcid, Voermans, N.C., Nicol C. Voermans, Voermans, Nicol C, Jungbluth, H., Heinz Jungbluth   +5 more
core   +1 more source

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Clinical Genetics, Volume 109, Issue 4, Page 772-777, April 2026.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 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  

Adult Survival in SMA Type 1: A 23‐Year Journey With Home Ventilation and Multidisciplinary Support

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Diffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Antonio E. Camelo‐Filho, Renata Monteiro Jovino, Betina S. Tomaz, Paulo R. Nóbrega, Marcelo A. Holanda   +4 more
wiley   +1 more source

What's new in neuromuscular disorders? The congenital myopathies

, 2003
The congenital myopathies are a heterogeneous group of early-onset neuromuscular conditions with characteristic findings on muscle biopsy, comprising central core disease, minicore myopathy (multi-minicore disease), nemaline myopathy and myotubular ...
Sewry, C A, Jungbluth, H; id_orcid, Muntoni, F   +2 more
core   +1 more source

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

Medicine Bulletin, Volume 2, Issue 2, Page 167-183, March 2026.
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source