Results 1 to 10 of about 148 (89)

BAG3 directly interacts with mutated alphaB-crystallin to suppress its aggregation and toxicity. [PDF]

PLoS ONE, 2011
A homozygous disruption or genetic mutation of the bag3 gene causes progressive myofibrillar myopathy in mouse and human skeletal and cardiac muscle disorder while mutations in the small heat shock protein αB-crystallin gene (CRYAB) are reported to be ...
Akinori Hishiya, Mortada Najem Salman, Serena Carra, Harm H Kampinga, Shinichi Takayama   +4 more
doaj   +1 more source

The Expanding Spectrum of FLNC Cardiomyopathy

Cardiogenetics, 2022
Mutations in gene encoding filamin C (FLNC) have been historically associated with hypertrophic cardiomyopathy (HCM) and myofibrillar myopathy [...]
Emanuele Monda, Martina Caiazza, Giuseppe Limongelli   +2 more
doaj   +1 more source

Integrated proteomic and transcriptomic profiling identifies aberrant gene and protein expression in the sarcomere, mitochondrial complex I, and the extracellular matrix in Warmblood horses with myofibrillar myopathy

BMC Genomics, 2021
Background Myofibrillar myopathy in humans causes protein aggregation, degeneration, and weakness of skeletal muscle. In horses, myofibrillar myopathy is a late-onset disease of unknown origin characterized by poor performance, atrophy, myofibrillar ...
Zoë J. Williams, Deborah Velez-Irizarry, Keri Gardner, Stephanie J. Valberg   +3 more
doaj   +1 more source

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center

Frontiers in Neurology, 2020
Background: Myofibrillar myopathy is a group of hereditary neuromuscular disorders characterized by dissolution of myofibrils and abnormal intracellular accumulation of Z disc-related proteins.
Yue-Bei Luo, Yuyao Peng, Yuling Lu, Qiuxiang Li, Huiqian Duan, Fangfang Bi, Huan Yang   +6 more
doaj   +1 more source

Surprising genotype expressed as a common limb-girdle muscular dystrophy [PDF]

Romanian Journal of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) comprise a phenotypical spectrum of muscular dystrophies with a high degree of genotypical variability. We describe the case of a 56-year-old male with a history and clinical picture suggestive for LGMD with ...
Liviu Cozma, Maria Barsevschi, Cristina Mitu, Alexandra Bastian, Bogdan Ovidiu Popescu   +4 more
doaj   +1 more source

Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy

eLife, 2022
Dystonin (DST), which encodes cytoskeletal linker proteins, expresses three tissue-selective isoforms: neural DST-a, muscular DST-b, and epithelial DST-e.
Nozomu Yoshioka, Masayuki Kurose, Masato Yano, Dang Minh Tran, Shujiro Okuda, Yukiko Mori-Ochiai, Masao Horie, Toshihiro Nagai, Ichizo Nishino, Shinsuke Shibata, Hirohide Takebayashi   +10 more
doaj   +1 more source

Myofibrillar Myopathy Mimicking Polyneuropathy

Case Reports in Neurology, 2020
A 76-year-old man with a 5-year history of gait difficulties was suspected to have length-dependent sensorimotor polyneuropathy. Electrodiagnostic results pointed to a foot drop of neurogenic etiology, except for the prominence of myotonic discharges on ...
Pierre R. Bourque, Ari Breiner, Jodi Warman-Chardon   +2 more
doaj   +1 more source

Myofibrillar myopathy: a rare but important differential diagnosis of camptocormia in a patient with Parkinson’s Disease

Neurological Research and Practice, 2023
Here we report on a patient with Parkinson's Disease and camptocormia due to Myofibrillar Myopathy Type 3. By leading the reader through the clinical reasoning process and highlighting the respective red flags we aim to increase the readers’ awareness ...
Jan Niklas Petry-Schmelzer, Angela Abicht, Michael T. Barbe, Gilbert Wunderlich   +3 more
doaj   +1 more source

Neuromuscular disease: 2021 update

Free Neuropathology, 2021
This review highlights ten important advances in the neuromuscular disease field that were first reported in 2020. The overarching topics include (i) advances in understanding of fundamental neuromuscular biology; (ii) new / emerging diseases; (iii ...
Marta Margeta
doaj   +1 more source

Statins Induce Locomotion and Muscular Phenotypes in Drosophila melanogaster That Are Reminiscent of Human Myopathy: Evidence for the Role of the Chloride Channel Inhibition in the Muscular Phenotypes

Cells, 2022
The underlying mechanisms for statin-induced myopathy (SIM) are still equivocal. In this study, we employ Drosophila melanogaster to dissect possible underlying mechanisms for SIM.
Mohamed H. Al-Sabri, Neha Behare, Ahmed M. Alsehli, Samuel Berkins, Aadeya Arora, Eirini Antoniou, Eleni I. Moysiadou, Sowmya Anantha-Krishnan, Patricia D. Cosmen, Johanna Vikner, Thiago C. Moulin, Nourhene Ammar, Hadi Boukhatmi, Laura E. Clemensson, Mathias Rask-Andersen, Jessica Mwinyi, Michael J. Williams, Robert Fredriksson, Helgi B. Schiöth   +18 more
doaj   +1 more source