Results 121 to 130 of about 7,635 (221)

Molecular biology of distal muscular dystrophies—Sarcomeric proteins on top

, 2007
During the last 10 years several muscular dystrophies within the group of distal myopathies have been clarified as to the molecular genetic cause of the disease.
Udd, Bjarne, Bjarne Udd
core   +1 more source

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers

, 2020
Autosomal dominant pathogenic variants in the filamin C gene (FLNC) have been associated with myofibrillar myopathies, distal myopathies, and isolated cardiomyopathies.
Oppermann, Ursula, Lacène, Emmanuelle, Evangelista, Teresinha, Chanut, Anaïs, Bassez, Guillaume, Metay, Corinne, Brochier, Guy, Böhm, Johann, Laporte, Jocelyn, Lornage, Xavière, Carlier, Pierre, Bui, Mai-Thao, Romero, Norma   +12 more
core   +1 more source

Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation

Annals of Clinical and Translational Neurology
Objective The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the distal parts ...
Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A. Austin‐Tse, Vijay S. Ganesh, Melanie C. O'Leary, Heidi L. Rehm, Michael K. Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese   +16 more
doaj   +1 more source

Electrophysiological Substrate and Ablation Outcomes in Atrial Fibrillation With Hypertrophic Cardiomyopathy: A Propensity‐Matched Multicenter Study

Journal of Arrhythmia, Volume 42, Issue 3, June 2026.
Multicentre retrospective propensity‐score‐matched cohort study (n = 286; 3 centres, Pakistan; 2015‐2023) comparing electrophysiological substrate and 12‐month ablation outcomes in patients with atrial fibrillation and hypertrophic cardiomyopathy (HCM‐AF, red) versus lone atrial fibrillation (Lone AF, green; 1:1 PSM on 14 covariates).
Umair Abrar, Fazal Ghaffar, Muhammad Zuhaid, Huzaifa Bin Afzaal, Palwasha Abbasi, Muhammad Hasnain Iqbal, Moʻminov Jahongir Zokirjon oʻgʻli, Sifat Ullah Safi   +7 more
wiley   +1 more source

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern, Karryn Crisamore, John Patton, Robert Schuck, Michael Pacanowski   +4 more
wiley   +1 more source

Myopathies associated with beta-tropomyosin mutations

, 2012
Mutations in TPM2, encoding beta-tropomyosin, have recently been found to cause a range of muscle disorders. We review the clinical and morphological expression of the previously reported mutations illustrating the heterogeneity of beta-tropomyosin ...
Ohlsson, Monica,, Palm, Lars,, Tajsharghi, H., Ohlsson, M., Palm, L., Oldfors, Anders,, Tajsharghi, Homa,, Oldfors, A., Palm, L.,, Oldfors, A.,, Ohlsson, M.,, Lund University., Palm, Lars   +12 more
core   +1 more source

Periorbitale heliotrope Erytheme mit Ödem als potenzieller klinischer Indikator für eine paraneoplastische Dermatomyositis – eine Fallserie

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 6, Page 731-736, June 2026.
Zusammenfassung Die Dermatomyositis (DM) im Erwachsenenalter kann eine enge Assoziation mit Malignomen aufweisen, insbesondere bei Nachweis von Anti‐TIF1‐γ‐ oder Anti‐NXP‐2‐Antikörpern. Diese Fallserie beschreibt zehn Fälle von DM mit ausgeprägten periorbitalen heliotropen Erythemen und Ödemen (PHEÖ), in der bei neun Patienten in der apparativen ...
Antigona Aliu, Ulrich Peter Wehry, Frank Oellig, Thilo Gambichler, Sven‐Niklas Burmann, Milan Vidakovic, Julian Kionke, Jörg H. W. Distler, Andrea‐Hermina Györfi, Valentina Laura Müller, Alexander Kreuter   +10 more
wiley   +1 more source

Congenital Myopathy Due to RyR1 Gene Mutation in a Newborn Masquerading as a Consequence of Hypoxic-ischemic Encephalopathy

Indian Pediatrics Case Reports
Background: Congenital myopathies may be a cause of prolonged and persistent hypotonia and weakness in a newborn, which may be overlooked as a neurological consequence of hypoxic-ischemic encephalopathy.
Yamini Patial, Rohit Anand
doaj   +1 more source

Integrative Advances in Equine Genomics From Reference Assemblies to Evolutionary History and Key Traits

Evolutionary Applications, Volume 19, Issue 6, June 2026.
ABSTRACT Horses are major domestic animals and cultural symbols that have accompanied humans for millennia. They underpin transport, agriculture, warfare and sport, and also provide a model for studying domestication, complex traits and adaptive evolution.
Ying Lu, Ruoshan Ma, Bo Wang, Jiao Wu, Yuqing Chong, Zhendong Gao, Weidong Deng   +6 more
wiley   +1 more source

Overlapping phenotype of GNE myopathy and dystrophinopathy: a rare case with dual variants from India

Journal of Rare Diseases
Purpose Distal myopathies are rare neuromuscular disorders, among which GNE myopathay (also known as Nonaka myopathy) results from autosomal recessive mutations in the GNE [glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase] gene, while ...
Tamali Halder, Deepika Joshi, Parimal Das   +2 more
doaj   +1 more source