Results 21 to 30 of about 16,504 (255)

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.
Aarli, Adams, Amyot, Barbeau, Bosch, Bray, Campanella, Cohen, Cox, Coërs, Croft, Direkze, Dutil, Fried, Fuchs, Goto, Graef von, Graf, Hartmann, Hayes, Julien, Kearns, Kiloh, Krause, Lakin, Lees, Lewis, Liversedge, Lundberg, Man, Maningand, Mater, Matsunaga, Murphy, Myrianthopoulos, Nicolaissen, Peterman, Radu, Rebeiz, Roberts, Satoyoshi, Saucier, Schmitt, Schmitt, Schotland, Schwarz, Szobar, Taylor, Victor, Zellweger   +49 more
core   +1 more source

The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies

Acta Neuropathologica Communications, 2022
The descriptions of muscle pathology in dysferlinopathy patients have classically included an inflammatory infiltrate that can mimic inflammatory myopathies.
Nicole Becker, Steven A. Moore, Karra A. Jones   +2 more
doaj   +1 more source

Cryo-EM structure of hnRNPDL-2 fibrils, a functional amyloid associated with limb-girdle muscular dystrophy D3

Nature Communications, 2023
The authors report the Cryo-EM of hnRNPDL-2 fibrils. The structure highlights features of a functional amyloid associated with limb-girdle muscular dystrophy-3 and explains how alternative splicing controls the assembly of this ribonucleoprotein.
Javier Garcia-Pardo, Andrea Bartolomé-Nafría, Antonio Chaves-Sanjuan, Marcos Gil-Garcia, Cristina Visentin, Martino Bolognesi, Stefano Ricagno, Salvador Ventura   +7 more
doaj   +1 more source

Novel Variants of ANO5 in Two Patients With Limb Girdle Muscular Dystrophy: Case Report

Frontiers in Neurology, 2022
Here we report on two unrelated adult patients presenting with Limb girdle muscular dystrophy who were found to have novel variants in ANO5. Both patients had prominent weakness of their proximal lower limbs with mild weakness of elbow flexion and ...
Matthew Katz, Fleur C. Garton, Mark Davis, Robert D. Henderson, Pamela A. McCombe, Pamela A. McCombe   +5 more
doaj   +1 more source

Tcap Deficiency in Zebrafish Leads to ROS Production and Mitophagy, and Idebenone Improves its Phenotypes

Frontiers in Cell and Developmental Biology, 2022
Limb-girdle muscular dystrophy 2G (LGMD2G) is a subtype of limb-girdle muscular dystrophy. However, the disease’s mechanisms are still not fully understood, and no established therapeutic targets have been found.
Xiaoqing Lv, Rui Zhang, Ling Xu, Guangyu Wang, Chuanzhu Yan, Pengfei Lin   +5 more
doaj   +1 more source

カベオリン異常症における特徴的な骨格筋MRI画像所見に関する検討 [PDF]

, 2019
博士(医学) 甲第702号(主論文の要旨、要約、審査結果の要旨、本文)，著者名:Kumiko IHIGURO・Takahiro NAKAYAMA・Masaru YOSHIOKA・Terumi MURAKAMI・Sachiko KAJINO・Minobu SHICHIJI・Takatoshi SATO・Naomi HINO-FUKUYO・Satoshi KURU・Makiko OSAWA・Satoru NAGATA・Mariko OKUBO・Nobuyuki MURAKAMI・Yukiko K ...
石黒 久美子
core   +2 more sources

The clinical spectrum of limb girdle muscular dystrophy. A survey in the Netherlands [PDF]

, 1996
A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD).
Bakker, E. (Egbert), Barth, P.G. (Peter), Bolhuis, P.A. (P.), Busch, H.F.M. (Herman), Essen, J.A. (Anthonie) van, Ginjaar, I.B. (Ieke), Haan, R.J. (Rob) de, Hooff, L.J.M.A. (L. J M A) van, Höweler, C.J. (Chris), Jennekens, F.G.I. (Frans G.), Jongen, P. (P.), Kooj, A.J. (Anneke), Ommen, G.J. (Gert) van, Oosterhuis, H.J.G.H. (H. J G H), Padberg, B. (Barbara), Spaans, F. (F.), Visser, M. (Marianne) de, Wintzen, A.R. (Axel), Wokke, J.H.J. (John)   +18 more
core   +1 more source

Myocardial Contractile Dysfunction is Present Without Histopathology in a Mouse Model of Limb-Girdle Muscular Dystrophy-2F and is Prevented after Claudin-5 Virotherapy

Frontiers in Physiology, 2016
Mutations in several members of the dystrophin glycoprotein complex lead to skeletal and cardiomyopathies. Cardiac care for these muscular dystrophies consists of management of symptoms with standard heart medications after detection of reduced whole ...
Nima Milani-Nejad, Eric J Schultz, Jessica L Slabaugh, Paul M L Janssen, Jill A. Rafael-Fortney   +4 more
doaj   +1 more source

Regional anesthesia as a safe option in patient with limb girdle muscular dystrophy undergoing total abdominal hysterectomy: A case report and case review

Clinical Case Reports, 2022
Regional anesthesia can be a very safe option in patients with limb girdle muscular dystrophy undergoing lower abdominal surgeries as general anesthesia and volatile anesthetic agents are associated with increased risk of malignant hyperthermia and ...
Sagar Devkota, Sangeeta Shrestha, Tara Gurung, Saurav Shrestha   +3 more
doaj   +1 more source

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]

, 2008
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Achanzar, Anderson, Aroul-Selvam, Bansal, Barker, Bashir, Bateman, Berg, Bernatchez, Bravo, Britton, Brunger, Cagliani, Cagliani, Cho, Cornilescu, Couet, Davis, de Luna, Delaglio, DeLano, Doherty, Dosset, Essen, Eugen-Matthias Strehle, Flocco, Glaser, Gouet, Han, Holm, Huang, James D. Watson, Katharine Bushby, Kawabe, Krissinel, Laskowski, Lennon, Letunic, Linge, Linge, Liu, Lu, Matsuda, Matsuda, McNeil, Miyoshi, Muhandiram, Nagashima, Nalefski, Nederveen, Nguyen, Nicholas H. Keep, Ottiger, Paul C. Driscoll, Ponting, Pryank Patel, Richard Harris, Rizo, Roux, Ruckert, Rumaisa Bashir, Somers, Stella M. Geddes, Sutton, Tagawa, Takahashi, Tan, Therrien, Vranken, Yamazaki, Yasunaga   +70 more
core   +1 more source