Results 61 to 70 of about 7,259,281 (171)

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, Volume 26, Issue 9, Page 6-23, September 2026.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Clinical and imaging differences between limb⁃girdle muscular dystrophy type 2B and immune⁃mediated necrotizing myopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2020
Objective To investigate the clinical and imaging differences between limb⁃girdle muscular dystrophy type 2B (LGMD2B) and immune⁃mediated necrotizing myopathy (IMNM).
Ya⁃wen ZHAO, Yan⁃li WANG, Zhao⁃xia WANG, Wei ZHANG, Yun YUAN   +4 more
doaj  

Autosomal recessive limb-girdle muscular dystrophy type 2B

Definitions, 2020
Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy ...

semanticscholar   +1 more source

Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, Through a Study of an Iranian Family With Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype–Genotype Correlation Analysis

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Desmin, a crucial intermediate filament in muscle cells, maintains structural integrity in cardiac muscle and provides stability to striated muscle cells. Mutations in the DES gene lead to desminopathies, causing diverse cardiac and skeletal myopathies.
Saeideh Kavousi, Farzad Kamali, Bahareh Rabbani, Mehrdad Behmanesh, Nejat Mahdieh, Mehrdad Noruzinia   +5 more
wiley   +1 more source

The heart in limb girdle muscular dystrophy [PDF]

, 1998
OBJECTIVE: To assess the frequency, nature, and severity of cardiac abnormalities in limb girdle muscular dystrophy, and its relation to age and weakness in various genotypes.
Barth, P. G., Busch, H.F.M., Jennekens, F. G., van der Kooi, AJ, Jongen, P. J., Jongen, PJH, Voogt, W.G. de, Jongen, P.J.H., Visser, M. de, Barth, PG, Barth, P.G., Busch, H. F., Kooi, A.J. van der, de Voogt, WG, Jennekens, FGI, de Visser, M., van der Kooi, A. J., Jennekens, F.G.I., de Voogt, W. G., de Voogt, W.G., van der Kooi, A.J., Busch, HFM (Herman), Visser, M   +22 more
core   +1 more source

Dnajb5 From Antarctic Fish Reveals a Redox‐Sensitive Mechanism Coordinating Muscle Regeneration via mTORC1 and HDAC4

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 4, August 2026.
ABSTRACT Background Dnajb5, a member of the heat shock protein family, has not been previously reported to play a role in muscle differentiation. We identify Dnajb5 as a negative regulator of myogenesis via mammalian target of rapamycin (mTOR) and histone deacetylase 4 (HDAC4) signalling, functioning as a central controller of muscle growth and ...
Sun‐Hee Cho, Min‐Kyung Choi, Mi‐Ock Baek, Hyeon‐Hee Son, Binh Thanh Nguyen, Min‐Jung Kang, Il‐Chan Kim, Jin‐Hyoung Kim, Mee‐Sup Yoon   +8 more
wiley   +1 more source

Refining the genetics of muscular dystrophies with defective glycosylation of dystroglycan [PDF]

, 2010
The aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as dystroglycanopathies.
Godfrey, C.
core  

An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core   +1 more source

Evaluation of quantitative muscle MRI and an intelligent phenotyping housing system as advanced phenotyping methods in a mouse model of calpain 3‐deficient muscular dystrophy

Animal Models and Experimental Medicine, Volume 9, Issue 7, Page 1469-1479, July 2026.
We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp, Marlena Rohm, Gabriele Russo, Xavier Helluy, Abdulhadi Kocabas, Martijn Froeling, Felix Kleefeld, Denise Manahan‐Vaughan, Tobias Ruck, Frank Jacobsen, Matthias Vorgerd, Johannes Forsting, Lara Schlaffke   +12 more
wiley   +1 more source

Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy

Molecular Therapy: Nucleic Acids, 2018
Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Joshua J.A. Lee, Rika Maruyama, William Duddy, Hidetoshi Sakurai, Toshifumi Yokota   +4 more
doaj   +1 more source