Zobrazeno 1 - 10
of 409
pro vyhledávání: '"Rimmed vacuoles"'
Autor:
Tomoo Mano, Naohiko Iguchi, Nobuyuki Eura, Naoki Iwasa, Nanami Yamada, Hirosei Horikawa, Kazuma Sugie
Publikováno v:
Frontiers in Neurology, Vol 14 (2024)
IntroductionInclusion body myositis (IBM) is a chronic inflammatory muscle disease that is characterized by mixed myogenic and neurogenic electromyography (EMG) findings. We investigated the association between EMG findings and the IBM stage.MethodsW
Externí odkaz:
https://doaj.org/article/0f512cccfd15448cbd69cdd23d5d69e2
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
p62/Sequestosome-1 (SQSTM1) is a stress-inducible scaffold protein involved in multiple cellular processes, including apoptosis, inflammation, cell survival, and selective autophagy. SQSTM1 mutations are associated with a spectrum of multisystem prot
Externí odkaz:
https://doaj.org/article/33f1a5a83aed4243a4452e3d2b826d60
Publikováno v:
Frontiers in Neurology, Vol 14 (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. A total of 24 HINT1 gene mutations ha
Externí odkaz:
https://doaj.org/article/711bc00fee8f467fb42da95fe4ffb04f
Autor:
Guang Ji, Ning Wang, Xu Han, Yaye Wang, Jinru Zhang, Yue Wu, Hongran Wu, Shaojuan Ma, Xueqin Song
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
DNAJB6 was identified as the causative gene of limb-girdle muscular dystrophy type 1D. In recent years, the phenotypic and molecular spectrum of DNAJB6-myopathy has been expanded, and several mutations of DNAJB6 have been identified in Europe, North
Externí odkaz:
https://doaj.org/article/78711856bbae4b56b8a0a457416cd0fa
Autor:
Roberta Telese, Serena Pagliarani, Alberto Lerario, Patrizia Ciscato, Gigliola Fagiolari, Denise Cassandrini, Nadia Grimoldi, Giorgio Conte, Claudia Cinnante, Filippo M. Santorelli, Giacomo P. Comi, Monica Sciacco, Lorenzo Peverelli
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. M
Externí odkaz:
https://doaj.org/article/c9a9ba74695140be9a23183bf6db0129
Autor:
Ting Chen, Xiang-Hui Lu, Hui-Fang Wang, Rui Ban, Hua-Xu Liu, Qiang Shi, Qian Wang, Xi Yin, Chuan-Qiang Pu
Publikováno v:
Chinese Medical Journal, Vol 129, Iss 15, Pp 1805-1810 (2016)
Background: Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopat
Externí odkaz:
https://doaj.org/article/23d680d879704f7dba3425571bfedb06
Autor:
Biplab Das, Manoj Kumar Goyal, Sanat Ramchandra Bhatkar, Pulikottil Wilson Vinny, Manish Modi, Vivek Lal, N Gayathri, Anitha Mahadevan, Bishan Dass Radotra
Publikováno v:
Annals of Indian Academy of Neurology, Vol 19, Iss 1, Pp 119-122 (2016)
Background: Hereditary inclusion body myopathy (HIBM) continues to be underrecognized clinically despite a characteristic topography of weakness with total sparing of quadriceps muscles and patient being wheelchair bound. We report seven patients of
Externí odkaz:
https://doaj.org/article/f3d003bc2c49439cbef9eba1979c0682
Autor:
Zhiyv Niu, Carly Sabine Pontifex, Sarah Berini, Leslie E. Hamilton, Elie Naddaf, Eric Wieben, Ross A. Aleff, Kristina Martens, Angela Gruber, Andrew G. Engel, Gerald Pfeffer, Margherita Milone
Publikováno v:
Frontiers in Neurology, Vol 9 (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
Externí odkaz:
https://doaj.org/article/b52b8d2eeaf5408ca25991522ea4a062
Autor:
Jantima Tanboon, Kanjana Rongsa, Manop Pithukpakorn, Kanokwan Boonyapisit, Chanin Limwongse, Tumtip Sangruchi
Publikováno v:
Case Reports in Neurology, Vol 6, Iss 1, Pp 55-59 (2014)
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive or sporadic early adult-onset myopathy caused by mutations in the UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase (GNE) gene. Characteristic pathologic features
Externí odkaz:
https://doaj.org/article/49f571e1c8ed41cb9d3ced683b2a0b45
Autor:
Paul E. McKeever, Christina Chrisman
Publikováno v:
Journal of Clinical Neuromuscular Disease. 22:90-96
We report a case of 2 sisters in their 20s with genetically confirmed UDP-N-acetylglucoasmine 2-epimerase/N-acetylmannosamine kinase myopathy along with muscle biopsy findings. Both patients described slowly progressive signs of distal-predominant we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa694915472990e827e44d8cbd38f15f
https://doi.org/10.1097/cnd.0000000000000317
https://doi.org/10.1097/cnd.0000000000000317