myasthenic syndrome
Acetylcholine receptor δ subunit mutations underlie a fast channel myasthenic syndrome and arthrogryposis multiplex congenita
... channel myasthenic syndrome are located in each of the AChR subunits (23, 24), they result in an increased response to ACh and would not inhibit fetal ...fast-channel syndrome due to a mis- sense ...
7
Clinical Reasoning: A child with arthrogryposisCongenital myasthenic syndrome-CHRNA1 mutation
... Presence of polyhydramnios, reduced fetal movements, and arthrogryposis multiplex congenita might suggest an underly- ing disorder of the motor system. Presence of respiratory dis- tress, stridor, and feeding difficulties ...
5
<p>Lambert-Eaton Myasthenic syndrome: early diagnosis is key</p>
... Lambert-Eaton myasthenic syndrome (LEMS) is an uncommon neuromuscular junction (NMJ) disorder with distinctive pathophysiological, clinical, electrophy- siological and laboratory ...
11
Relapse of both small cell lung cancer and Lambert–Eaton myasthenic syndrome after a 13-year disease-free survival period
... Lambert–Eaton myasthenic syndrome (LEMS) is a para- neoplastic syndrome and only 3% of small cell lung car- cinoma (SCLC) patients have LEMS ...neurological syndrome (PNS) even after a long ...
5
The association between Lambert–Eaton myasthenic syndrome and small cell lung carcinoma
... Abstract: Lambert–Eaton myasthenic syndrome (LEMS) is an autoimmune disorder mediated by autoantibodies to voltage-gated calcium channels. The disorder is diagnosed clinically on the basis of a triad of ...
7
Update on treatment options for Lambert–Eaton myasthenic syndrome: focus on use of amifampridine
... Lambert–Eaton myasthenic syndrome (LEMS), antibodies against presynaptic voltage-gated calcium channels reduce the quantal release of acetylcholine, causing muscle weakness and autonomic ...
9
Lung adenocarcinoma with Lambert–Eaton myasthenic syndrome indicated by voltage gated calcium channel: a case report
... Lambert–Eaton myasthenic syndrome (LEMS) is a rare but well-known paraneoplastic disorder characterized by muscle weakness and fatigability predominantly involving the proximal lower ...
5
Calpain activation impairs neuromuscular transmission in a mouse model of the slow channel myasthenic syndrome
... Transgenic expression of human calpastatin CS, the natural inhibitor of calpain, in εL269F mice reduced calpain to baseline, normalized NMJ size and miniature endplate current MEPC frequ[r] ...
11
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
... Congenital myasthenic syn- dromes (CMSs) are inherited disorders of signal transmis- sion at the NMJ, and they demonstrate considerable clinical variability and genetic ...
8
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome
... While in the neural form of full length agrin, p.R1698C mutant agrin found in Patient 2, in consistent with the re- ported p.V1727F mutant protein, exhibited impaired ability to induce A[r] ...
7
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
... Supplemental Note: Case Reports Individual 1 affected individual II:1 in family 1; Table 1 of white European origin was born after a normal pregnancy. Soon after birth,[r] ...
7
Myasthenic syndrome AChRα C loop mutant disrupts initiation of channel gating
... Congenital myasthenic syndromes (CMSs) are neuromuscular disorders that can be caused by defects in ace tylcholine receptor (AChR) ...with myasthenic symptoms since birth: a V188M mutation in the Cloop ...
10
Synaptic Compensatory Mechanism and its Impairment in Autoimmune Myasthenic Diseases
... zone organization, the post-synaptic ACh receptor (AChR) clustering at endplate membranes, the trans-synaptic communication from muscle to nerve, and the synaptic stabilization. The present data and discussions are ...
8
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4
... was myasthenic with increased jitter and the long-exercise test showed 40% decrease of CMAP ...congenital myasthenic syndrome and re- lated disorders (CHRNA1, CHRNB1, CHRND, CHRNE, RAPSN, CHAT, MUSK, ...
12
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
... thenic syndrome” and “responsive to pyridostigmine” is true for CMS caused by RAPSN defects and false for that caused by defects in DOK7, but a database that only con- tains an entry for “congenital ...
16
Song, In-Ho (2003): Klinische und molekulargenetische Charakterisierung von Patienten mit Kongenitalen Myasthenen Syndromen. Dissertation, LMU München: Medizinische Fakultät
... Congenital myasthenic syndrome (CMS) in three European kinships due to novel splice site mutation (IVS7-2A/G) in the epsilon acetylcholine receptor (AChR) subunit gene (2002). Interact[r] ...
100
Lambert-Eaton syndrome IgG inhibits transmitter release via P/Q Ca2+ channels
... Objective: To determine whether immunoglobulin G (IgG) from patients with Lambert-Eaton myasthenic syndrome (LEMS) decreases action potential – evoked synaptic vesicle exocytosis, and wh[r] ...
6
Clinical Reasoning: A 14-year-old boy with fatigue and episodic worsening of weakness
... limb-girdle myasthenic syndrome can be a challenging diagnosis and should be included in the differential diagnosis of patients presenting with limb-girdle muscle weakness with ...
6
Contrast-provoked myasthenic crisis: A case report and review of literature
... increasing myasthenic weakness, and only one reported adverse reaction of nausea and vomiting post CT with ...of myasthenic weakness examination following injection of intravenous contrast ...
5
Myasthenic crisis following iodinated contrast material (iohexol) aspiration: a case report
... seronegative. Myasthenic crisis is a serious complication which is characterized by worsening muscle weakness leading to respiratory failure requiring intubation and mechanical ...
5