Results 101 to 110 of about 12,800 (285)

Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers [PDF]

, 2019
Desmin-associated myofibrillar myopathy (MFM) has pathologic similarities to neurodegeneration-associated protein aggregate diseases. Desmin is an abundant muscle-specific intermediate filament, and disease mutations lead to its aggregation in cells ...
Arhzaouy, Khalid, Batchelor, Mark, Bieschke, Jan, Kedia, Niraja, Pittman, Sara K., Sun, Yuanzi, Weihl, Conrad C.   +6 more
core   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, Volume 13, Issue 1, Page 170-179, January 2026.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

Kelch proteins: emerging roles in skeletal muscle development and diseases [PDF]

, 2014
Our understanding of genes that cause skeletal muscle disease has increased tremendously over the past three decades. Advances in approaches to genetics and genomics have aided in the identification of new pathogenic mechanisms in rare genetic disorders ...
Beggs, Alan H, Gupta, Vandana A
core   +1 more source

Sporadic inclusion body myositis: an unsolved mystery [PDF]

, 2009
Sporadic inclusion body myositis (sIBM) is considered to be the most common acquired muscle disease associated with aging. It is a disabling disorder still without effective treatment.
Hanna, M, Holton, J, Machado, P, Miller, A   +3 more
core  

Early Onset Heart Failure due to RBM20 Variant: A Case Report Emphasizing Genetic Diagnosis and Arrhythmic Risk Stratification

Clinical Case Reports, Volume 14, Issue 1, January 2026.
Transthoracic echocardiography demonstrating biventricular dilatation. Parasternal long‐ and short‐axis views and apical four‐ and two‐chamber views show marked left ventricular dilatation with increased end‐diastolic volume, associated with right ventricular dilatation.
Cristian Orlando Porras Bueno, Cesar Augusto Balaguera, Alejandro Mariño Correa, Edward Andrés Cáceres Méndez   +3 more
wiley   +1 more source

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients [PDF]

, 2017
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres.
Brodherr, Turgut, Bruchertseifer, Vera, Eger, Katharina, Fischer, Dirk, Fürst, Dieter O., Germing, Alfried, Hellenbroich, Yorck, Heyer, Christoph M., Huebner, Angela, Ketelsen, Uwe-Peter, Kirschner, Janbernd, Kley, Rudolf A., Lochmüller, Hanns, Müller, Klaus, Peters, Sören A., Reum, Conny, Schröder, Rolf, Tolksdorf, Karen, van der Ven, Peter F. M., Vorgerd, Matthias, Walter, Maggie C.   +20 more
core  

Muscle histopathology in nebulin-related nemaline myopathy : ultrastrastructural findings correlated to disease severity and genotype [PDF]

, 2014
Peer ...
Bellance, Remi, Böhm, Johann, De Winter, Josine M., Estournet, Brigitte, Eymard, Bruno, Fardeau, Michel, Laporte, Jocelyn, Lehtokari, Vilma-Lotta, Lubieniecki, Fabiana, Madelaine, Angéline, Malfatti, Edoardo, Monges, Soledad, Ottenheijm, Coen AC, Pelin, Katarina, Quijano-Roy, Susana, Romero, Norma B., Schäffer, Ursula, Taratuto, Ana Lía, Viou, Mai Thao, Wallgren-Pettersson, Carina, Wu, Bin   +20 more
core   +4 more sources

Clinical Characteristics of Patients With Anti‐Signal Recognition Particle Antibody: A Cohort Study

Immunity, Inflammation and Disease, Volume 14, Issue 1, January 2026.
ABSTRACT Background Anti‐signal recognition particle (anti‐SRP) antibodies are myositis‐specific autoantibodies associated with immune‐mediated necrotizing myopathy. This study was undertaken to better understand how patients with anti‐SRP antibodies have been managed at our tertiary centre and to assess the spectrum of clinical features and outcomes ...
Ameen Jubber, Maumer Durrani, Abdullah Almayahi, Kehinde Sunmboye   +3 more
wiley   +1 more source

A Novel Frameshift Variant c.1023_1029del (p.Asp342ArgfsTer54) Leading to Extended Incorrect Protein C Termini in HOMER2 Causing Autosomal Dominant Nonsyndromic Hearing Loss

Journal of Clinical Laboratory Analysis, Volume 40, Issue 1, January 2026.
We identified a novel c.1023_1029del (p.Asp342ArgfsTer54) frameshift variant in the HOMER2 gene that causes ADNSHL in a Chinese family with progressive, post‐lingual sensorineural hearing loss. The c.1023_1029del variant deletes 7 nucleotides, leading to an extended incorrect protein C terminus and marks the sixth pathogenic (or likely pathogenic ...
Li‐Ting Peng, Wei‐Qian Wang, Sha‐Sha Huang, Min Liu, Su‐Yan Yang, Dong‐Yang Kang, Xiang Wang, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu   +9 more
wiley   +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