Results 51 to 60 of about 163 (89)

Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene

BMC Neurology
Background Mutations in the SLC5A7 gene cause congenital myasthenia, a rare genetic disorder. Mutation points in the SLC5A7 gene differ among individuals and encompass various genetic variations; however, exon deletion variants have yet to be reported in
Sheng Tian, Huan Sun, Fen-Fang Gao, Kang Zhang, Jing Nan, Mu Niu, Xiao Jia, Gang Xu, Wei Ge   +8 more
doaj   +1 more source

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

Pharmacotherapy Risks in Rare Genetic Diseases: Cross‐Referencing ACMG Secondary Findings v3.2 List With Clinical Databases

Clinical and Translational Science, Volume 19, Issue 1, January 2026.
ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen, Benjamin Q. Duong, Jordan Brady, Pamela Arn   +3 more
wiley   +1 more source

Treatment Challenges in Triple Seronegative Myasthenia Gravis: A Single‐Center Experience and Narrative Review of the Literature

Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.
Introduction Triple seronegative myasthenia gravis (tSNMG) constitutes a distinct subgroup of MG that, despite the absence of recognized pathogenetic antibodies directed against the acetylcholine receptor (AChR), muscle‐specific tyrosine kinase (MuSK), or low‐density lipoprotein receptor–related protein 4 (LRP4), is considered to have an autoimmune ...
Dimitra Veltsista, John Tzartos, Ioannis Liampas, Zinovia Kefalopoulou, Elisabeth Chroni, Senthilkumar Subramanian   +5 more
wiley   +1 more source

LRP4‐Related Lethal Syndromic Form of Syndactyly in Limousin Cattle

Animal Genetics, Volume 57, Issue 2, April 2026.
Joana Jacinto, Jessica Gearing, Aurélien Capitan, Ana‐Maria Zorlescu, Arthur Otter, Cord Drögemüller   +5 more
wiley   +1 more source

Myasthenia Gravis in a Child With Schimke Immuno‐Osseous Dysplasia: A Case Report

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT We report a rare association between Schimke immune‐osseous dysplasia and myasthenia gravis. Clinicians should be aware of potential autoimmune neuromuscular complications in SIOD, as early recognition and tailored immunosuppression may improve prognosis.
Mohamed S. Al Riyami, Intisar Al Alawi, Maisa Al Riyami, Badria Al Gaithi, Suliman Al Saidi, Ibtisam Al Shuaili, Naifain Al Kalbani, Nabil Al Maki   +7 more
wiley   +1 more source

Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series

Frontiers in Pediatrics
Congenital myasthenic syndrome with episodic apnea is associated with pathogenic variants in the CHAT gene. While respiratory disorders and oculomotor findings are commonly reported in affected individuals, a subset of patients only present with muscle ...
Aysylu Murtazina, Artem Borovikov, Andrey Marakhonov, Artem Sharkov, Artem Sharkov, Inna Sharkova, Alena Mirzoyan, Sviatlana Kulikova, Ralina Ganieva, Viktoriia Zabnenkova, Oksana Ryzhkova, Sergey Nikitin, Elena Dadali, Sergey Kutsev   +13 more
doaj   +1 more source

Electrophysiological study in neuromuscular junction disorders

Annals of Indian Academy of Neurology, 2013
This review is on ultrastructure and subcellular physiology at normal and abnormal neuromuscular junctions. The clinical and electrophysiological findings in myasthenia gravis, Lambert-Eaton myasthenic syndrome (LEMS), congenital myasthenic syndromes ...
Ajith Cherian, Neeraj N Baheti, Thomas Iype   +2 more
doaj   +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

Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review

BMC Neurology
Background Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission with few effective treatments. Salbutamol, a β2-adrenergic agonist, has shown anecdotal benefit, yet no comprehensive assessment of its clinical ...
Muhammad Takhman, Reem Shihab, Moath Hattab, Hala O. Abdallah, Mohammad Bdair, Hernan D. Gonorazky, Issa Alawneh   +6 more
doaj   +1 more source