Results 21 to 30 of about 1,745 (185)

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

Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles [PDF]

Neurology India, 2008
Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. The recent years have witnessed increasing efforts to identify the causative genes for distal myopathies.
Malicdan, May Christine V., Nonaka, Ikuya   +1 more
openaire   +2 more sources

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +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

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Chinnery, Patrick F., Goldfarb, Lev, Lochmueller, Hanns, McNeill, Alisdair, Reilich, Peter, Schramm, Nicolai, Straub, Volker, Walter, Maggie C.   +8 more
core   +1 more source

Nationwide patient registry for GNE myopathy in Japan [PDF]

, 2014
BACKGROUND: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene.
En Kimura, Harumasa Nakamura, Ichizo Nishino, Madoka Mori-Yoshimura, Miho Murata, Naohiro Yonemoto, Shin’ichi Takeda, Yukiko K Hayashi   +7 more
core   +1 more source