Results 41 to 50 of about 2,996 (188)

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

Chinese Medical Journal, 2016
Background: Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction.
Jia-Ze Tan, Yuan Man, Fei Xiao
doaj   +1 more source

Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes [PDF]

, 2011
Congenital myasthenic syndromes (CMS) are a rare heterogeneous group of inherited neuromuscular disorders associated with distinctive clinical, electrophysiological, ultrastructural and genetic abnormalities.
Chaouch, Amina, Müller, Juliane S., Barišić, Nina, Hanns Lochmüller, Juliane S. Müller, Lochmüller, Hanns, Nina Barišić, Amina Chaouch   +7 more
core   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

Cholinesterases in Tripartite Neuromuscular Synapse

Frontiers in Molecular Neuroscience, 2021
The neuromuscular junction (NMJ) is a tripartite synapse in which not only presynaptic and post-synaptic cells participate in synaptic transmission, but also terminal Schwann cells (TSC).
Konstantin A. Petrov, Svetlana E. Proskurina, Eric Krejci   +2 more
doaj   +1 more source

Expanding African contributions to ClinVar through genetic counselor‐led variant curation

Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% of global ClinVar submissions.
Nabeelah Peerbhai, Nolene Ramsunder, Tarin Europa, Jeannine Heckmann, Melissa Nel   +4 more
wiley   +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

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

Therapeutic Strategies in Congenital Myasthenic Syndromes [PDF]

Neurotherapeutics, 2008
Congenital myasthenic syndromes (CMS) are classified in terms of the located defect: presynaptic, postsynaptic, and synaptic. They are inherited disorders caused by various genetic defects, all but the slow-channel CMS by recessive inheritance. To date, 10 different CMS are known and further CMS subtypes and their genetic cause may be disclosed by ...
Schara U, Lochmüller HKM
openaire   +4 more sources

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

Efficacy of terbutaline in familial limb girdle myasthenia: Case report and review of literature

Annals of Indian Academy of Neurology, 2013
Congenital myasthenic syndromes (CMS) are frequently misdiagnosed due to their wide clinical heterogeneity. Molecular defects in various end-plate associated proteins are being identified.
Zeyaur Rahman Azad, Ajith Sivadasan, Mathew Alexander, Anil Kumar B Patil   +3 more
doaj   +1 more source