Results 51 to 60 of about 2,996 (188)

A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure

Frontiers in Pediatrics, 2020
This was a Chinese neonatal congenital myasthenic syndromes case caused by muscle skeletal receptor tyrosine kinase gene mutations, which have not been recorded in the Human Gene Mutation Database. The newborn girl had refractory respiratory failure from
Yanhua Shen, Yanhua Shen, Bo Wang, Bo Wang, Xia Zheng, Xia Zheng, Wenwen Zhang, Wenwen Zhang, Hailan Wu, Hailan Wu, Mingyan Hei, Mingyan Hei   +11 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

Makaluvamine G from the Marine Sponge Zyzzia fuliginosa Inhibits Muscle nAChR by Binding at the Orthosteric and Allosteric Sites

Marine Drugs, 2018
Diverse ligands of the muscle nicotinic acetylcholine receptor (nAChR) are used as muscle relaxants during surgery. Although a plethora of such molecules exists in the market, there is still a need for new drugs with rapid on/off-set, increased ...
Denis S. Kudryavtsev, Ekaterina N. Spirova, Irina V. Shelukhina, Lina V. Son, Yana V. Makarova, Natalia K. Utkina, Igor E. Kasheverov, Victor I. Tsetlin   +7 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

Congenital myasthenic syndromes: an update

Practical Neurology, 2013
The last 20 years has seen significant advances in our understanding and treatment of the congenital myasthenic syndromes. This article discusses individual syndromes, their management and how to distinguish the subtypes from each other as well as from other conditions that commonly mimic them. ### What are congenital myasthenic syndromes? Congenital
Finlayson, S, Beeson, D, Palace, J
openaire   +3 more sources

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

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile

European Journal of Translational Myology, 2017
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness ...
Jorge A. Bevilacqua, Marian Lara, Jorge Díaz, Mario Campero, Jessica Vászquez, Ricardo A. Maselli   +5 more
doaj   +1 more source

The Therapy of Congenital Myasthenic Syndromes [PDF]

Neurotherapeutics, 2007
Congenital myasthenic syndromes (CMSs) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more mechanisms. Specific diagnosis of a CMS is important as some medications that benefit one type of CMS can be detrimental in another type.
openaire   +2 more sources

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

A novel DOK7 mutation causing limb-girdle congenital myasthenic syndrome

, 2023
We report a case series of 5 Latino patients with limb-girdle pattern weakness, four patients are sisters, with one patient unrelated. Repetitive nerve stimulation showed a significant decrement in all cases.
Reynolds, Adam, Lin, Ava, Wang, Leo
core   +1 more source