Results 31 to 40 of about 163 (89)

A Pediatric Case of COLQ-Related Congenital Myasthenic Syndrome with Marked Fatigue

Children, 2023
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous inherited disorder that is treatable. Although the disease usually develops at birth or during infancy, some patients develop the disease in the second to third decades of
Takuya Horibe, Hideki Shimomura, Sachi Tokunaga, Naoko Taniguchi, Tomoko Lee, Shigemi Kimura, Yasuhiro Takeshima   +6 more
doaj   +1 more source

Experience Using Efgartigimod to Treat Juvenile Myasthenia Gravis in China: A Multicenter Retrospective Study

Muscle &Nerve, Volume 73, Issue 6, Page 1025-1031, June 2026.
ABSTRACT Introduction/Aims Current therapeutic management of juvenile myasthenia gravis (JMG) predominantly relies on conventional immunosuppressive therapies and expert consensus extrapolated from adult data, creating a critical gap in high‐quality, pediatric‐specific clinical evidence.
Jing Lin, Guoyan Qi, Susan Luo, Qilong Jiang, Bitao Bu, Min Liu, Yuzhen Wei, Meigui Han, Junhong Yang, Zhilan Zhao, Lili Zhang, Yifan Zhang, Haoyou Xu, Xingjie Hao, Zhijun Li   +14 more
wiley   +1 more source

Congenital Myasthenic Syndrome Caused by a Novel Hemizygous CHAT Mutation

Frontiers in Pediatrics, 2020
Congenital myasthenic syndrome (CMS) is a neuromuscular transmission disorder caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene mutation is characterized by episodic apnoea.
Yixia Zhang, Xinru Cheng, Chenghan Luo, Mengyuan Lei, Fengxia Mao, Zanyang Shi, Wenjun Cao, Jingdi Zhang, Qian Zhang   +8 more
doaj   +1 more source

Structural Lung Disease in Children and Adolescents With Severe Neurological Disorders

Pediatric Pulmonology, Volume 61, Issue 6, June 2026.
ABSTRACT Background and Objective Children with severe neurological disorders are at risk of secondary respiratory morbidity due to impaired airway clearance and dysphagia, but systematic data on structural lung changes remain scarce. Methods We retrospectively analyzed all clinically indicated chest CT examinations at a tertiary care center (2015–2025)
Daniel A. F. Bernard, Cathrin Dahl, Luca Salhöfer, Anna Pauly, Mathis Steindor, Margarete Olivier, Ulrike Schara‐Schmidt, Matthias Welsner, Bernd Schweiger, Sebastian Zensen, Marcel A. Drews, Johannes Haubold, Michael Forsting, Lale Umutlu, Marcel Opitz, Florian Stehling   +15 more
wiley   +1 more source

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

Orphanet Journal of Rare Diseases, 2017
Background Congenital myasthenic syndrome caused by mutations in AGRN, a gene encoding a protein with a crucial function at the neuromuscular junction, is a rare disorder. There are few studies in this area. We here present two cases with novel mutations
Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson, Chongbo Zhao   +10 more
doaj   +1 more source

Adverse Drug Reaction Study of Botulinum Toxin‐A in the Real World

Journal of Cosmetic Dermatology, Volume 25, Issue 6, June 2026.
ABSTRACT Background Despite the increasing use of botulinum toxin type A (BoNT‐A) in aesthetic and therapeutic applications, its real‐world adverse drug reaction (ADR) profile remains incompletely characterized. Current evidence relies largely on small‐scale clinical observations rather than large, systematic analyses.
Jiaxu Gu, Yue Sun, Kexin Chen, Jieyi Wang, Bingcheng Lu, Hongqiang Xie, Xiaoming Liu, Cong Huang, Xingling Jian, Bo Yu   +9 more
wiley   +1 more source

A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome. [PDF]

PLoS ONE, 2014
Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ).
Caitlin J Rinz, Jonathan Levine, Katie M Minor, Hammon D Humphries, Renee Lara, Alison N Starr-Moss, Ling T Guo, D Colette Williams, G Diane Shelton, Leigh Anne Clark   +9 more
doaj   +1 more source

First‐in‐Human Dose Selection and Safety, Tolerability, Pharmacokinetics, and Immunogenicity of the Muscle‐Specific Kinase Agonist Adimanebart (ARGX‐119)

The Journal of Clinical Pharmacology, Volume 66, Issue 5, May 2026.
Abstract Adimanebart (ARGX‐119), a first‐in‐class, humanized, agonistic monoclonal antibody, specifically targets and activates muscle‐specific kinase, stabilizing the neuromuscular junction, increasing muscle strength, and decreasing muscle weakness and fatigability in nonclinical, proof‐of‐concept studies.
Tonke van Bragt, Christa Kneip, Sofie Priem, Xinghong Leng, Rachelle Mutch, Sonya K. Patel, Peter Vanhoenacker, Cristina Vaghi, Sven Hoefman, Rebecca Shilling, Roeland Vanhauwaert   +10 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

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