Results 111 to 120 of about 7,635 (221)

Myopathies associated with myosin heavy chain mutations

, 2004
Myosin, a molecular motor, converts chemical energy into mechanical force. The motor domain of myosin heavy chain (MyHC) includes an ATP binding region with ATPase activity and an actin-binding region. Motor function is achieved by conformational changes,
Oldfors, Anders,, Tajsharghi, Homa,, Darin, Niklas,, Lindberg, Christopher,   +3 more
core  

Distal Arm Weakness

, 2018
Distal arm weakness may be caused by involvement of the intrinsic hand muscles (interossi, thenar and hypothenar muscles, lumbricals) or extrinsic hands muscles (long fingers flexors and extensors).
Aziz Shaibani
core   +1 more source

SOD1 p.D12Y variant is associated with ALS/distal myopathy spectrum

, 2020
BACKGROUND: The aim of our study was to describe patients with the p.D12Y variant (previously reported as D11Y) in SOD1 disclosing heterogeneous clinicopathological features.
Lattante, Serena, Ragozzino, Elvira, Sabatelli, Mario, Marangi, Giuseppe, Zollino, Marcella, Tasca, Giorgio   +5 more
core   +1 more source

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

BMC Medical Genetics, 2017
Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies.
Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh   +6 more
doaj   +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

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

SAPHO Syndrome Presenting With Severe Inflammatory Back Pain (Sacroiliitis) and Rare Retinol Associated Myopathy in an Iraqi Adolescent Male: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT SAPHO syndrome is a rare autoinflammatory disorder characterized by synovitis, acne, pustulosis, hyperostosis, and osteitis. Although musculoskeletal and dermatologic manifestations are well recognized, extra‐articular involvement remains uncommon, particularly muscular inflammation.
Farah Jaafar Mahdi, Ali Saad Al‐Shammari, Mustafa Majid Hameed, Marwah Sami Ahmed, Ibrahim Khalil, Zahraa Saeed Fahad, Ahmed Dahham Hasan, Nizar Abdulateef Jassim   +7 more
wiley   +1 more source

Welander Distal Myopathy-Associated TIA1 E384K Mutation Disrupts Stress Granule Dynamics Under Distinct Stress Conditions

Biology
Cellular stress triggers the formation of diverse RNA–protein aggregates, which can be associated with physiological responses, pathological conditions, or even detrimental outcomes.
Beatriz Ramos-Velasco, José Alcalde, José M. Izquierdo   +2 more
doaj   +1 more source

Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons

Advanced Genetics, Volume 7, Issue 2, June 2026.
This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Colin Jones, Ambalangodage C. Jayasuriya
wiley   +1 more source