Abstract:
:Congenital myasthenic syndromes (CMS) stem from defects in presynaptic, synaptic basal lamina, and postsynaptic proteins. The presynaptic CMS are associated with defects that curtail the evoked release of acetylcholine (ACh) quanta or ACh resynthesis. Defects in ACh resynthesis have now been traced to mutations in choline acetyltransferase. A basal lamina CMS is caused by mutations in the collagenic tail subunit (ColQ) of the endplate species of acetylcholinesterase that prevent the tail subunit from associating with catalytic subunits or from becoming inserted into the synaptic basal lamina. Most postsynaptic CMS are caused by mutations in subunits of the acetylcholine receptor (AChR) that alter the kinetic properties or decrease the expression of AChR. The kinetic mutations increase or decrease the synaptic response to ACh and result in slow- and fast-channel syndromes, respectively. Most low-expressor mutations reside in the AChR epsilon subunit and are partially compensated by residual expression of the fetal type gamma subunit. In a subset of CMS patients, endplate AChR deficiency is caused by mutations in rapsyn, a molecule that plays a critical role in concentrating AChR in the postsynaptic membrane.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Engel AG,Ohno K,Sine SMdoi
10.1002/mus.10269subject
Has Abstractpub_date
2003-01-01 00:00:00pages
4-25issue
1eissn
0148-639Xissn
1097-4598journal_volume
27pub_type
杂志文章,评审相关文献
MUSCLE & NERVE文献大全abstract::A 53-year-old man developed multifocal radicular pain. The diagnosis of Lyme neuroborreliosis was delayed until bifacial paresis and right lower abdominal wall weakness developed, prompting further evaluation. Cerebrospinal fluid (CSF) examination showed aseptic meningitis. Antibodies directed against Borrelia burgdor...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880161118
更新日期:1993-11-01 00:00:00
abstract:INTRODUCTION:We investigated the viscoelastic stress relaxation response before and after a 10-week hamstrings static stretch program. METHODS:The maximal range of motion (ROMmax ) and maximal torque (Torquemax ) were assessed before and after a 10-week stretching program. Six 30-s static stretches at a predetermined ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.24593
更新日期:2015-05-01 00:00:00
abstract:INTRODUCTION:Slowly progressive, genetic neuromuscular diseases (gNMDs) often lead to important motor deficiencies and functional limitations. The Quality of Life in Genetic Neuromuscular Disease Questionnaire (QoL-gNMD) is a new health-related quality-of-life questionnaire developed for these patients. The purpose of ...
journal_title:Muscle & nerve
pub_type: 杂志文章,多中心研究
doi:10.1002/mus.25598
更新日期:2017-12-01 00:00:00
abstract::To study causes of obturator neuropathy and to correlate them with outcome, we retrospectively studied patients seen at the Mayo Clinic electromyography (EMG) laboratory from 1975 through 1999 with a diagnosis of obturator neuropathy. Twenty-two patients with obturator neuropathy were identified. The clinical outcome ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.10065
更新日期:2002-04-01 00:00:00
abstract::The site of the recording electrode influences the amplitude of the compound muscle action potential (CMAP) and its variation over a length of nerve. The effects of large electrodes on this source of intraindividual variability were assessed. Right median nerves of 20 healthy subjects were studied, and recordings made...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880180110
更新日期:1995-01-01 00:00:00
abstract::Compound muscle action potentials (CMAPs) evoked by magnetic brain stimuli are larger if the subject provides a steady background voluntary contraction of the target muscle. This facilitation could be due either to cortical or spinal mechanisms, or both. Both magnetic and electrical stimuli given immediately after the...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(SICI)1097-4598(199608)19:8<953::AID-MUS3>
更新日期:1996-08-01 00:00:00
abstract::Ultrastructural, biochemical, and electrophysiological analyses were done on 12-14-month-old mice deficient for myelin-associated glycoprotein (MAG) to further characterize the neuropathy that develops as they age. Electron microscopy demonstrated normal myelin compaction and axonal degeneration in a large number of m...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.1159
更新日期:2001-10-01 00:00:00
abstract::Many patients with the limb-girdle variant of congenital myasthenic syndrome (CMS) possess mutations in the human Dok-7 gene (DOK7). We identified six unrelated CMS patients with DOK7 mutations. Two patients, one mildly and the other moderately affected, were homozygous for the previously described 1263insC mutation. ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20944
更新日期:2008-04-01 00:00:00
abstract:INTRODUCTION:Accuracy of needle electromyography is typically ensured by use of anatomical landmarks and auditory feedback related to voluntary activation of the targeted muscle; however, in certain clinical situations, landmarks may not be palpable, auditory feedback may be limited or not present, and targeting a spec...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.22008
更新日期:2011-07-01 00:00:00
abstract:INTRODUCTION:We evaluated anatomic variations of distal branches of the superficial fibular sensory nerve electrophysiologically. METHODS:Orthodromic nerve conduction studies (NCS) of the first and third branches (M-I, M-III) of the medial dorsal cutaneous nerve and the fourth and fifth branches (I-IV, I-V) of the int...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.25196
更新日期:2017-01-01 00:00:00
abstract:INTRODUCTION:Improving axonal outgrowth and remyelination is crucial for peripheral nerve regeneration. Miconazole appears to enhance remyelination in the central nervous system. In this study we assess the effect of miconazole on axonal regeneration using a sciatic nerve crush injury model in rats. METHODS:Fifty Spra...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.26033
更新日期:2018-05-01 00:00:00
abstract::The purpose of the study was to identify factors that could predict differences among individuals in the time to failure of a submaximal contraction. Twenty subjects (10 men, 25+/-6 years) supported an inertial load equivalent to 20% of the maximal voluntary contraction (MVC) force with the elbow flexor muscles for as...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20752
更新日期:2007-05-01 00:00:00
abstract::We developed electrophysiologic methods for testing the three major forelimb nerves as a tool to evaluate motor and sensory recovery in rats. Median, ulnar, or radial nerves were transected and repaired in Sprague-Dawley rats. Compound muscle action potentials (CMAPs) and somatosensory evoked potentials (SSEPs) were r...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20971
更新日期:2008-10-01 00:00:00
abstract::The absolute number of satellite cells (SC) in young and adult rat skeletal muscle was estimated by correlating data from light and electron microscopic quantitation of myofiber nuclei (myonuclei and satellite cell nuclei) with biochemical assays for determining total muscle DNA content. Expressed both as a proportion...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880060807
更新日期:1983-10-01 00:00:00
abstract::We wished to determine whether evoked force output from a human muscle could be inferred from the amplitude and the frequency of evoked muscular sounds. Sounds from adductor pollicis were recorded with a microphone and compared to evoked force changes produced by varying the intensity of nerve stimulation or of volunt...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(sici)1097-4598(199708)20:8<991::aid-mus9>
更新日期:1997-08-01 00:00:00
abstract:INTRODUCTION:Many prognostic factors have been studied in carpal tunnel decompression, but most studies consider only a subset of variables. METHODS:Three thousand three hundred thirty-two operations were used to develop prognostic models, and 885 operations were used for validation. Outcome recorded on a Likert scale...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.26297
更新日期:2018-12-01 00:00:00
abstract::Direct infection of muscle fibers by human T-lymphotropic virus type I (HTLV-I) has recently been reported in a patient with polymyositis infected with both HTLV-I and human immunodeficiency virus (HIV). Coinfections of these viruses are frequently found in the United States. In Kagoshima, Japan, patients with polymyo...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880150108
更新日期:1992-01-01 00:00:00
abstract::Techniques to estimate motor unit number (MUNE) measure the number of functioning motor units in a muscle. As amyotrophic lateral sclerosis (ALS) is characterized by progressive motor unit loss, this disease offers an ideal setting for the use of MUNE. Statistical MUNE was employed in a recent multicenter trial of cre...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20671
更新日期:2007-02-01 00:00:00
abstract::Muscle weakness, studied in 4 patients with multiple sclerosis (MS), was compared with values from normal subjects. Twitch occlusion showed that normal subjects could activate their muscles maximally, but patients rarely achieved greater than 60% activation. In both groups, motoneuron firing rates increased linearly w...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880151011
更新日期:1992-10-01 00:00:00
abstract::Immunologic syndromes are associated with hepatitis B viral (HBV) infection. However, mononeuropathy multiplex (MM), a syndrome in which immune factors may play a role, is rare in acute HBV infection. Few cases of MM associated with HBV infection have been reported. We report a case of acute HBV infection in which MM ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880130304
更新日期:1990-03-01 00:00:00
abstract::A patient in perfect health prior to electrical shock developed an ALS-like syndrome after the shock. Onset of the disease occurred in the limb through which the shock entered, and subsequently followed a course well-described in previous case reports. Possible mechanisms of disease are discussed. ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880141008
更新日期:1991-10-01 00:00:00
abstract::Being the smallest functional units under neural control, motor units play an integral role in muscle physiology. However, at the present time, there does not exist any widely accepted technique for quantifying or estimating the number of motor units in a muscle. Specifically, the existing techniques are the increment...
journal_title:Muscle & nerve
pub_type: 杂志文章,评审
doi:10.1002/mus.880131108
更新日期:1990-11-01 00:00:00
abstract::The purpose of this study was to investigate the influence of an 8-week resistance training program on force steadiness and common drive for the vastus lateralis muscle. Eight untrained men performed a resistance training program. Before the program and at the end of each week, the subjects performed a trapezoid isome...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.21836
更新日期:2011-02-01 00:00:00
abstract::Patients with chronic inflammatory demyelinating polyneuropathy (CIDP) received immune globulin intravenous, 10% caprylate/chromatography purified (IGIV-C, Gamunex; n=59) or placebo (n=58) every 3 weeks for up to 24 weeks (first period) in a randomized, double-blind, parallel-group, response-conditional, crossover stu...
journal_title:Muscle & nerve
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1002/mus.21236
更新日期:2009-04-01 00:00:00
abstract::The origins of impaired finger and hand function were examined in 10 stroke survivors with chronic spastic hemiparesis, with the intent of assessing whether mechanical restraint or altered neurophysiological control mechanisms are responsible for the well-known impairment of finger extension. Simultaneous extension of...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.10443
更新日期:2003-09-01 00:00:00
abstract::Impaired torque production is a major physical impairment following stroke, and has been studied extensively in isometric conditions. However, functional use of a limb requires torque production during movement, and the effects of velocity on maximal torque production may be abnormally enhanced in the paretic limb. Th...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20157
更新日期:2004-12-01 00:00:00
abstract::We employed physiogenomic analyses to investigate the relationship between myalgia and selected polymorphisms in serotonergic genes, based on their involvement with pain perception and transduction of nociceptive stimuli. We screened 195 hypercholesterolemic, statin-treated patients, all of whom received either atorva...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20871
更新日期:2007-09-01 00:00:00
abstract::Masseter muscle biopsies were obtained from nine patients undergoing orthognatic surgery or surgery for parotid tumors. A detailed enzyme-histochemical and immunocytochemical study of these muscles was performed using antibodies specific to the various isozymes of the myosin heavy chain (MHC) in order to identify the ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880110614
更新日期:1988-06-01 00:00:00
abstract::The distinction between chronic demyelinating polyneuropathies associated with IgM paraproteinemia and anti-myelin-associated glycoprotein (MAG) antibodies (MAG-PN) and chronic inflammatory demyelinating polyneuropathies (CIDPs) relies on the anti-MAG antibodies assay. The aim of the study was to identify clinical and...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20230
更新日期:2005-01-01 00:00:00
abstract:BACKGROUND:Anti-cytosolic 5'-nucleotidase 1A (cN1A) antibodies are commonly detected in patients with sporadic inclusion body myositis (sIBM). However, their pathogenic role has not been established. Moreover, efforts toward identifying sIBM distinct clinicopathologic characteristics associated with these antibodies ha...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.27157
更新日期:2020-12-29 00:00:00