Results 31 to 40 of about 1,189 (168)

Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles

Frontiers in Neurology, 2023
IntroductionRecessive mutations in the gene encoding the histidine triad nucleotide-binding protein 1 (HINT1) are associated with axonal motor-predominant Charcot–Marie–Tooth (CMT) disease with neuromyotonia.
Nan Jiang, Rocio Vazquez Do Campo, Mohamed Kazamel   +2 more
doaj   +1 more source

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature

Frontiers in Neurology, 2023
IntroductionRimmed vacuolar myopathies (RVMs) are a group of genetically heterogeneous diseases that share histopathological characteristics on muscle biopsy, including the aberrant accumulation of autophagic vacuoles. However, the presence of non-coding
Xiao-jing Wei, Hui Sun, Jing Miao, Ru-qing Qiu, Zong-zhi Jiang, Zhen-wei Ma, Wei Sun, Xue-fan Yu   +7 more
doaj   +1 more source

Treatment of severe equinovarus deformity associated with distal myopathy

Foot & Ankle Surgery: Techniques, Reports & Cases, 2023
Inclusion body myopathy (IBM) is a form of distal myopathy which is characterized by progressive muscle weakness and wasting.1 A healthy 23-year-old male with unremarkable past medical history presented with left ankle pain and contracture of ...
Caleb Thomas, DPM, Assal Nour Ziai, DPM, FACFAS, Ellianne M. Nasser, DPM, CWS, FACFAS   +2 more
doaj   +1 more source

Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report

Frontiers in Neurology, 2023
p62/Sequestosome-1 (SQSTM1) is a stress-inducible scaffold protein involved in multiple cellular processes, including apoptosis, inflammation, cell survival, and selective autophagy.
Rui Wu, Sai Shao, Ling Yin, Jianwen Deng, Shougang Guo, Lin Lu   +5 more
doaj   +1 more source

Subsarcolemmal and cytoplasmic p62 positivity and rimmed vacuoles are distinctive for PLIN4‐myopathy

Annals of Clinical and Translational Neurology, 2022
PLIN4‐myopathy is a recently identified autosomal dominant muscular disorder caused by the coding 99 bp repeat expansion in PLIN4, presenting with distal or proximal weakness.
Qi Wang, Meng Yu, Wei Zhang, Qiang Gang, Zhiying Xie, Jin Xu, Chao Zhou, Depeng Wang, Lingchao Meng, He Lv, Zhirong Jia, Jianwen Deng, Yun Yuan, Zhaoxia Wang   +13 more
doaj   +1 more source

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

npj Regenerative Medicine, 2022
Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) myopathy (GNEM) is an autosomal recessive distal myopathy with rimmed vacuoles typically manifesting in ...
Rebecca E. Schmitt, Douglas Y. Smith, Dong Seong Cho, Lindsey A. Kirkeby, Zachary T. Resch, Teerin Liewluck, Zhiyv Niu, Margherita Milone, Jason D. Doles   +8 more
doaj   +1 more source

Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features

Frontiers in Neurology, 2018
ObjectiveThe aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on ...
Zhiyv Niu, Zhiyv Niu, Carly Sabine Pontifex, Carly Sabine Pontifex, Sarah Berini, Leslie E. Hamilton, Elie Naddaf, Eric Wieben, Ross A. Aleff, Kristina Martens, Kristina Martens, Angela Gruber, Andrew G. Engel, Gerald Pfeffer, Gerald Pfeffer, Margherita Milone   +15 more
doaj   +1 more source

Proteasomes in Distal Myopathy with Rimmed Vacuoles.

Internal Medicine, 1998
In a previous report we suggested that muscle fibers in distal myopathy with rimmed vacuoles (DMRV) were degraded by both lysosomal proteolysis (cathepsins) and Ca2+-dependent, nonlysosomal proteolysis (calpain). Given recent evidence of abnormal ubiquitin accumulation in rimmed vacuoles, we examined the role of the ATP-ubiquitin-dependent proteolytic ...
T, Kumamoto, S, Fujimoto, S, Nagao, T, Masuda, R, Sugihara, H, Ueyama, T, Tsuda   +6 more
openaire   +3 more sources

Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy. [PDF]

PLoS ONE, 2015
Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes.
Juan Zhao, Jing Liu, Jiangxi Xiao, Jing Du, Chengli Que, Xin Shi, Wei Liang, Weiping Sun, Wei Zhang, He Lv, Yun Yuan, Zhaoxia Wang   +11 more
doaj   +1 more source

Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review

Clinical Case Reports, 2022
We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3‐year history of lower distal extremity weakness initially affecting his legs.
Zhouwei Xu, Jingyan Xiang, Xinghua Luan, Zhi Geng, Li Cao   +4 more
doaj   +1 more source