Results 81 to 90 of about 7,807 (220)

Are Muscular Dystrophies Cholesterol‐Handling Diseases? Lessons From HMGCR Variants and Statin‐Associated Myopathies

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley   +1 more source

Dominant lethal pathologies in male mice engineered to contain an X-linked DUX4 transgene [PDF]

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic disease associated with epigenetic alterations in the subtelomeric heterochromatin of the D4Z4 macrosatellite repeat.
Dandapat, Abhijit, Bosnakovski, Darko, Hartweck, Lynn M., Arpke, Robert, Baltgalvis, Kristen, Vang, Derek, Baik, June, Darabi, Radbod, Perlingeiro, Rita C. R., Hamra, Kent, Gupta, Kapil, Lowe, Dawn, Kyba, Michael   +12 more
core   +2 more sources

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies

European Journal of Neurology, Volume 33, Issue 1, January 2026.
This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá, Sofía Portela, Rafael Sivera, Marina Frasquet, Fernando Más‐Estellés, Pilar Martí, Inmaculada Azorín, Karolina Aragon‐Gawinska, María Tárrega, Herminia Argente‐Escrig, Juan F. Vázquez‐Costa, Roger Vilchez, Juan J. Vilchez, Teresa Sevilla, Nuria Muelas   +14 more
wiley   +1 more source

Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. [PDF]

PLoS ONE, 2012
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions.
Giorgio Tasca, Mario Pescatori, Mauro Monforte, Massimiliano Mirabella, Elisabetta Iannaccone, Roberto Frusciante, Tiziana Cubeddu, Francesco Laschena, Pierfrancesco Ottaviani, Enzo Ricci   +9 more
doaj   +1 more source

Anti-HMGCR myopathy mimicking facioscapulohumeral muscular dystrophy

Open Medicine
Statin use can lead to various muscle-related issues, including benign creatine kinase (CK) elevations, myalgias, toxic myopathies, rhabdomyolysis, and immune-mediated necrotizing myositis (IMNM), which primarily affects older males.
Braun Andreas Albert, Atiya Monika, Göhner Katja, Hortobagyi Tibor, Burkhardt Tobias, Schreiner Bettina   +5 more
doaj   +1 more source

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei.

PLoS Genetics, 2020
FSHD is characterized by the misexpression of DUX4 in skeletal muscle. Although DUX4 upregulation is thought to be the pathogenic cause of FSHD, DUX4 is lowly expressed in patient samples, and analysis of the consequences of DUX4 expression has largely ...
Shan Jiang, Katherine Williams, Xiangduo Kong, Weihua Zeng, Nam Viet Nguyen, Xinyi Ma, Rabi Tawil, Kyoko Yokomori, Ali Mortazavi   +8 more
doaj   +1 more source

Cellular and animal models for facioscapulohumeral muscular dystrophy

Disease Models & Mechanisms, 2020
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing profound
Alec M. DeSimone, Justin Cohen, Monkol Lek, Angela Lek   +3 more
doaj   +1 more source

DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. [PDF]

PLoS ONE, 2009
Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contractions of the D4Z4 repeat array in 4q35. We have previously identified a double homeobox gene (DUX4) within each D4Z4 unit that encodes a transcription factor expressed ...
Eugénie Ansseau, Dalila Laoudj-Chenivesse, Aline Marcowycz, Alexandra Tassin, Céline Vanderplanck, Sébastien Sauvage, Marietta Barro, Isabelle Mahieu, Axelle Leroy, India Leclercq, Véronique Mainfroid, Denise Figlewicz, Vincent Mouly, Gillian Butler-Browne, Alexandra Belayew, Frédérique Coppée   +15 more
doaj   +1 more source

Genetic and epigenetic contributors to FSHD [PDF]

Current Opinion in Genetics & Development, 2015
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscle disorder characterized by distinct chromatin changes including DNA hypomethylation of the D4Z4 macrosatellite repeat array on a disease-permissive 4qA allele and aberrant expression of the D4Z4-embedded DUX4 retrogene in skeletal muscle.
Daxinger, L., Tapscott, S.J., Maarel, S.M. van der   +2 more
openaire   +3 more sources

Dynamic MR of Muscle Contraction During Electrical Muscle Stimulation: Potential Application to the Evaluation of Neuromuscular Diseases

NMR in Biomedicine, Volume 38, Issue 12, December 2025.
This exploratory study investigated dynamic MRI during neuromuscular electrical stimulation (NMES) as a biomarker for muscular diseases. Fourteen healthy controls and ten patients with metabolic and myotonic myopathies underwent 3T MRI scanning. Results showed reduced strain and strain buildup rates in patients' soleus muscles compared to controls ...
Francesco Santini, Michele Giovanni Croce, Xeni Deligianni, Marta Brigid Maggioni, Matteo Paoletti, Leonardo Barzaghi, Niels Bergsland, Arianna Faggioli, Giulia Manco, Chiara Bonizzoni, Ning Jin, Sabrina Ravaglia, Anna Pichiecchio   +12 more
wiley   +1 more source