Results 61 to 70 of about 16,504 (255)

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

Molecular Genetics and Metabolism Reports, 2020
Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe a 44 
Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt   +8 more
doaj   +1 more source

Analysis of Human Sarcospan as a Candidate Gene for CFEOM1 [PDF]

, 2011
Background: Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the dystrophin associated protein complex in
Engle, Elizabeth Carson, Kunkel, Louis Martens, O'Brien, Kristine F   +2 more
core   +1 more source

Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background The diagnosis of inclusion body myositis (IBM) can be delayed because of its heterogeneous clinical presentation and the lack of specific biomarkers. Muscle imaging has gained increasing relevance over the past decade and is now included among the supportive criteria in the international diagnostic guidelines.
Eleonora Torchia, Matteo Lucchini, José Verdu‐Diaz, Sara Bortolani, Beatrice Ravera, Vincenzo Carlomagno, Alessandra Cicia, Daniela Bernardo, Mauro Monforte, Robert Rehmann, Rudolf Andre Kley, Mario Sabatelli, Jordi Díaz‐Manera, Enzo Ricci, Massimiliano Mirabella, Giorgio Tasca   +15 more
wiley   +1 more source

Functional muscle hypertrophy by increased insulin-like growth factor 1 does not require dysferlin. [PDF]

, 2019
IntroductionDysferlin loss-of-function mutations cause muscular dystrophy, accompanied by impaired membrane repair and muscle weakness. Growth promoting strategies including insulin-like growth factor 1 (IGF-1) could provide benefit but may cause ...
Barton, Elisabeth R, Brisson, Becky K, Hammers, David W, Liu, Min, Park, SooHyun, Pham, Jennifer, Smith, Lucas R, Sweeney, H Lee, Tian, Zuozhen, Vassilakos, Georgios   +9 more
core   +1 more source

Quantitative MRI Findings and Their Relationship to Muscle Histopathology and Ambulatory Clinical Function in Duchenne Muscular Dystrophy

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background Iterative decomposition of water and fat with echo asymmetry and least‐squares estimation quantitation (IDEAL‐IQ), a quantitative 6‐point Dixon magnetic resonance imaging (MRI) sequence, has been increasingly used for quantifying muscle fat fraction (FF) in neuromuscular disorders.
Yanyu Lu, Liang Yin, Chang Liu, Qingyue Yuan, Zhihao Xie, Jianan Liao, Siwei Chen, Qiang Gang, Yawen Zhao, Lingchao Meng, Wei Zhang, Jiangxi Xiao, Zhaoxia Wang, Yun Yuan, Zhiying Xie   +14 more
wiley   +1 more source

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 251-262, February 2026.
In children potentially fulfilling the criteria for developmental coordination disorder (DCD), phenotypical assessment does not sufficiently predict the diagnostic outcome (i.e. DCD or an alternative diagnosis). Due to the lack of distinguishing clinical and diagnostic features and the high prevalence of genetic diagnoses in these patients, additional ...
Martinica Garofalo, Fleur Vansenne, Jessika F. van Hoorn, Marina A. J. Tijssen, Dineke S. Verbeek, Deborah A. Sival   +5 more
wiley   +1 more source

Distinctive serum miRNA profile in mouse models of striated muscular pathologies.

PLoS ONE, 2013
Biomarkers are critically important for disease diagnosis and monitoring. In particular, close monitoring of disease evolution is eminently required for the evaluation of therapeutic treatments.
Nicolas Vignier, Fatima Amor, Paul Fogel, Angélique Duvallet, Jérôme Poupiot, Sabine Charrier, Michel Arock, Marie Montus, Isabelle Nelson, Isabelle Richard, Lucie Carrier, Laurent Servais, Thomas Voit, Gisèle Bonne, David Israeli   +14 more
doaj   +1 more source

Decreased Aerobic Capacity in ANO5-Muscular Dystrophy [PDF]

, 2016
Peer ...
Auranen, Mari, Kiuru-Enari, Sari, Kousi, Maria, Lamminen, Antti, Lehesjoki, Anna-Elina, Löfberg, Mervi, Mahjneh, Ibrahim, Muurinen , Tiina, Paetau, Anders, Piirilä, Päivi, Salmi, Tapani, Träskelin, Ann-Liz, Ylikallio, Emil   +12 more
core   +1 more source

Co‐Occurrence of Myasthenia Gravis and Facioscapulohumeral Muscular Dystrophy: A Case Series and Review of Literature

European Journal of Neurology, Volume 33, Issue 1, January 2026.
ABSTRACT Background Facioscapulohumeral dystrophy (FSHD) and Myasthenia Gravis (MG) are well‐known rare neuromuscular diseases of respectively genetic and acquired origin. Among muscular dystrophies, the co‐occurrence of MG with FSHD is the most common, representing a non‐negligible “double trouble”.
Giulia Tammam, Luisa Villa, Richard J. L. F. Lemmers, Jonathan Pini, Abderhmane Slioui, Laura Bouchareychas, Yann David, Mihai‐Bogdan Ioncea, Leonardo Salviati, Michele Cavalli, Andra Ezaru, Angela Puma, Jan J. Verschuuren, Silvère M. van der Maarel, Sabrina Sacconi   +14 more
wiley   +1 more source

Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice

Scientific Reports
Muscular dystrophy is a group of genetic disorders that lead to muscle wasting and loss of muscle function. Identifying genetic modifiers that alleviate symptoms or enhance the severity of a primary disease helps to understand mechanisms behind disease ...
Paula Zarén, Kinga I. Gawlik
doaj   +1 more source