Results 61 to 70 of about 7,593 (207)

Decades of Misdiagnosis as Myasthenia Gravis: Late‐Onset POLG‐Related Ophthalmoplegia Unveiled by Whole‐Genome Sequencing

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT A 55‐year‐old male developed POLG‐related ophthalmoplegia in 2015 and was misdiagnosed with seronegative myasthenia gravis for 10 years. Whole‐genome sequencing identified compound heterozygous POLG mutations, highlighting its value in diagnosing refractory neuromuscular disorders.
Tanli Lu, Huadong Lv, Xiaodan Luo, Xiuying Liu   +3 more
wiley   +1 more source

Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice

Scientific Reports
Muscular dystrophy is a group of genetic disorders that lead to muscle wasting and loss of muscle function. Identifying genetic modifiers that alleviate symptoms or enhance the severity of a primary disease helps to understand mechanisms behind disease ...
Paula Zarén, Kinga I. Gawlik
doaj   +1 more source

ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies [PDF]

, 2013
Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular ...
Aileen Reghan Foley, Alisa Kamynina, Baur, Beltran-Valero de Bernabe, Bonnemann, Bourteel, Breton, Brockington, Brockington, Brockington, Brockington, Brown, Caroline A. Sewry, Cheryl Longman, Cirak, Clement, Daniel E. Michele, DePristo, Devisme, Dincer, Dubowitz, Duclos, Elizabeth Stevens, Ervasti, Francesco Muntoni, Fukuyama, Gianni Marrosu, Godfrey, Godfrey, Hara, Helen Roper, Inamori, Jimenez-Mallebrera, Kanagawa, Kevin P. Campbell, Kobayashi, Kunz, Lefeber, Lefeber, Li, Li, Lina Brodd, Lommel, Longman, Matt Hurles, McDearmon, McDearmon, McDearmon, McDearmon, McKenna, Mercuri, Mercuri, Messina, Michele, Muntoni, Murakami, Peter Nürnberg, Petr Vondracek, Plagnol, Poppe, Raitta, Ralf Herrmann, Roscioli, Rudolf Korinthenberg, Sebahattin Cirak, Shu Yau, Silvia Torelli, Stalnaker, Stalnaker, Stalnaker, Steven A. Moore, Thomas Voit, Tobias Willer, van Reeuwijk, Vincent Plagnol, Voit, Waite, Walker, Warburg, Wewer, Willer, Yau, Yilmaz, Yoshida   +83 more
core   +1 more source

A Novel Dysferlin‐Binding Kinase CK2α Promotes Plasma Membrane Repair in Dysferlinopathy

The FASEB Journal, Volume 40, Issue 6, 31 March 2026.
When the cell membrane is injured, extracellular calcium enters the cell, triggering the accumulation of dysferlin at the lesion site. In the presence of dysferlin, CK2 is efficiently recruited to the damaged membrane and maintains its kinase activity through interaction with dysferlin.
Naoko Nakamura, Naoki Suzuki, Shin‐ichiro Kanno, Rei Yamanaka, Hiroya Ono, Rumiko Izumi, Rui Muliang, Christian Borgo, Akiyuki Ohno, Ryuhei Harada, Saki Saito, Yukino Funayama, Kensuke Ikeda, Shio Mitsuzawa, Yasuaki Watanabe, Tomomi Shijo, Tetsuya Akiyama, Toshiaki Takahashi, Makoto Kanzaki, Shion Osana, Hitoshi Warita, Yoshitsugu Aoki, Satoru Ebihara, Mauro Salvi, Ryoichi Nagatomi, Akira Yasui, Katsuya Miyake, Masashi Aoki   +27 more
wiley   +1 more source

RUNX2 Activation in Fibro/Adipogenic Progenitors Promotes Muscle Fibrosis in Muscular Dystrophy

Advanced Science, Volume 13, Issue 13, 3 March 2026.
This study revealed a novel role of the chemokine‐TGF‐β1‐RUNX2 axis in determining the fate of FAP differentiation and modulating muscle fibrosis in patients and mice with muscular dystrophies. ABSTRACT Clinical evidence indicates concurrent muscle inflammation and fibrosis in muscular dystrophies (MDs); however, the molecular mechanisms underlying ...
Pengkai Wu, Zehua Zhang, Kai Zheng, Ziqi Zhu, Yong Zhu, Abdukahar Kiram, Lei Zhao, Huihui Chen, Zhu Xu, Xihua Li, Beicheng Sun, Zhijian Li, Dengqiu Xu   +12 more
wiley   +1 more source

Rhabdomyolysis: a genetic perspective [PDF]

, 2015
Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Becker, J, Gardiner, AR, Holton, JL, Houlden, H, Jungbluth, H, Pitceathly, RD, Quinlivan, R, Scalco, RS, Zanoteli, E   +8 more
core   +4 more sources

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, Volume 4, Issue 1, Page 95-100, March 2026.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Efficient engraftment of pluripotent stem cell-derived myogenic progenitors in a novel immunodeficient mouse model of limb girdle muscular dystrophy 2I

Skeletal Muscle, 2020
Background Defects in α-dystroglycan (DG) glycosylation characterize a group of muscular dystrophies known as dystroglycanopathies. One of the key effectors in the α-DG glycosylation pathway is the glycosyltransferase fukutin-related protein (FKRP ...
Karim Azzag, Carolina Ortiz-Cordero, Nelio A. J. Oliveira, Alessandro Magli, Sridhar Selvaraj, Sudheer Tungtur, Weston Upchurch, Paul A. Iaizzo, Qi Long Lu, Rita C. R. Perlingeiro   +9 more
doaj   +1 more source

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

RNA Biology, 2022
Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some ...
Andrea C. Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, Anastasis Oulas, Marios Tomazou, Nikoletta Nikolenko, Chris Turner, Andreas Roos, Anna Lusakowska, Katarzyna Janiszewska, George K. Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, Eleni Zamba Papanicolaou, Grainne Gorman, Hanns Lochmüller, George M. Spyrou, Leonidas A. Phylactou   +17 more
doaj   +1 more source

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects. [PDF]

, 2015
BACKGROUND: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. METHODS: We evaluated clinical and genetic patient data from three different
Fischer, D., Huebner, A., Jung, H.H., Kana, V., Kress, W., Kuntzer, T., Lobrinus, J.A., Petersen, J.A., Rushing, E.J., Sinnreich, M., von der Hagen, M.   +10 more
core   +3 more sources