نتایج جستجو برای: congenital myasthenia

تعداد نتایج: 126576  

Journal: :Journal of neurology, neurosurgery, and psychiatry 1979
S Kawanami A Kanaide Y Itoyama Y Kuroiwa

Mitogen-induced blastoid transformation of peripheral blood lymphocytes from patients with myasthenia gravis was studied using a microplate culture technique and evaluated with 3H-thymidine incorporation. It was found that both phytohaemagglutinin and pokeweed mitogen responses decreased significantly in patients with myasthenia gravis. In myasthenic crisis, indices of stimulation by phytohaema...

Journal: :The Yale Journal of Biology and Medicine 1987
A. R. Pachner

The nicotinic acetylcholine receptor (AChR) is a large membrane protein found in muscle cells. It is involved in the transformation of acetylcholine packets into a membrane depolarization, which thereby leads to a muscle twitch. This large, complex molecule is the target of the autoimmune attack in myasthenia gravis, and much has been learned in the past decade about myasthenia by the induction...

2015
Fawzi Abukhalil Bijal Mehta Erin Saito Sejal Mehta Aaron McMurtray

Background. Previous reports describe ethnicity based differences in clinical and laboratory features between Caucasians and African Americans with myasthenia gravis. However, it is not known whether these findings apply to other ethnicities. Methods. Retrospective analysis of all patients treated for myasthenia gravis during a three-year period at a community based medical center. Results. A t...

Journal: :The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1994
C Ukachoke P Ashby A Basinski J A Sharpe

Consecutive patients (n = 114), who had single fiber electromyography of the frontalis muscles for symptoms suggestive of ocular myasthenia gravis, were followed up for a mean of 14 months (3-64 mos). At follow up, based on strict criteria, 23 patients were classified as having ocular myasthenia gravis, 8 patients were diagnosed as having mitochondrial myopathy or oculopharyngeal dystrophy, 18 ...

Journal: :Iranian journal of immunology : IJI 2009
Gholam-Ali Yousefipour Zahra Salami Shirin Farjadian

BACKGROUND Myasthenia gravis is an autoimmune disorder of neuromuscular junction characterized by skeletal muscle weakness and fatigability. Different genes may control the induction and clinical presentation of this disease. Various HLA alleles are reported as predisposing or protective genetic elements in myasthenia gravis. OBJECTIVE The aim of this study was to investigate the probable ass...

Journal: :Postgraduate medical journal 1985
K O Lee R Guan B Ee J S Cheah

The association of myasthenia gravis and periodic paralysis in thyrotoxicosis has not been reported before. We describe a Chinese man with thyrotoxicosis and myasthenia gravis, who subsequently developed periodic paralysis. The possible aetiological links are discussed.

Journal: :Journal of Medical Economics 2021

This article responds to:Healthcare resource utilization by patients with treatment-refractory myasthenia gravis in England

Journal: :Acta biochimica Polonica 2000
B Dworakowska K Dołowy

There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome, malignant hyperthermia and myasthenia. Neuronal disorders, e.g., epilepsy, episodic ataxia, famili...

Journal: :The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1998
F Grand'Maison

All disorders of neuromuscular transmission (NMT) may cause ventilatory failure, albeit rarely. Respiratory muscle weakness is occasionally the presenting feature of myasthenia gravis (MG), the Lambert-Eaton myasthenic syndrome (LEMS), hypermagnesemia and botulism. Chronic MG, congenital myasthenic syndromes and LEMS may be acutely exacerbated by various intercurrent conditions and by drugs whi...

Journal: :Archives of neurology 2003
Simone Kraner Iris Laufenberg Hans M Strassburg Joern P Sieb Ortrud K Steinlein

BACKGROUND The syndrome of congenital myasthenia with episodic apnea (CMS-EA) was previously found to be due to mutations in the choline acetyltransferase gene (CHAT). OBJECTIVE To identify the mutations underlying CMS-EA in a Turkish multiplex family. DESIGN Direct sequencing of the CHAT gene. PATIENTS A consanguineous Turkish family with 2 siblings affected by muscular weakness and epis...

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