Congenital myasthenic syndromes: progress over the past decade.

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 Nerve

journal_title

Muscle & nerve

authors

Engel AG,Ohno K,Sine SM

doi

10.1002/mus.10269

subject

Has Abstract

pub_date

2003-01-01 00:00:00

pages

4-25

issue

1

eissn

0148-639X

issn

1097-4598

journal_volume

27

pub_type

杂志文章,评审
  • Acute Lyme neuropathy presenting with polyradicular pain, abdominal protrusion, and cranial neuropathy.

    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

    authors: Krishnamurthy KB,Liu GT,Logigian EL

    更新日期:1993-11-01 00:00:00

  • Viscoelastic stress relaxation in the hamstrings before and after a 10-week stretching program.

    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

    authors: Peixoto GH,Andrade AG,Menzel HJ,Araújo SR,Pertence AE,Chagas MH

    更新日期:2015-05-01 00:00:00

  • The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version.

    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

    authors: Dany A,Rapin A,Lavrard B,Saoût V,Réveillère C,Bassez G,Tiffreau V,Péréon Y,Sacconi S,Eymard B,Dramé M,Jolly D,Novella JL,Hardouin JB,Boyer FC

    更新日期:2017-12-01 00:00:00

  • Obturator neuropathy: causes and outcome.

    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

    authors: Sorenson EJ,Chen JJ,Daube JR

    更新日期:2002-04-01 00:00:00

  • CMAP variability as a function of electrode site and size.

    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

    authors: van Dijk JG,Tjon-a-Tsien A,van der Kamp W

    更新日期:1995-01-01 00:00:00

  • Cortical and spinal mechanisms of facilitation to brain stimulation.

    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>

    authors: Mills KR,Kimiskidis V

    更新日期:1996-08-01 00:00:00

  • Nerve conduction abnormalities in aging mice deficient for myelin-associated glycoprotein.

    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

    authors: Weiss MD,Luciano CA,Quarles RH

    更新日期:2001-10-01 00:00:00

  • Variable phenotypes associated with mutations in DOK7.

    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

    authors: Anderson JA,Ng JJ,Bowe C,McDonald C,Richman DP,Wollmann RL,Maselli RA

    更新日期:2008-04-01 00:00:00

  • Accuracy of electromyography needle placement in cadavers: non-guided vs. ultrasound guided.

    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

    authors: Boon AJ,Oney-Marlow TM,Murthy NS,Harper CM,McNamara TR,Smith J

    更新日期:2011-07-01 00:00:00

  • Variations in the distal branches of the superficial fibular sensory nerve.

    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

    authors: Hemmi S,Kurokawa K,Nagai T,Kushida R,Okamoto T,Murakami T,Sunada Y

    更新日期:2017-01-01 00:00:00

  • Miconazole enhances nerve regeneration and functional recovery after sciatic nerve crush injury.

    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

    authors: Lin T,Qiu S,Yan L,Zhu S,Zheng C,Zhu Q,Liu X

    更新日期:2018-05-01 00:00:00

  • Time to failure of a sustained contraction is predicted by target torque and initial electromyographic bursts in elbow flexor muscles.

    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

    authors: Rudroff T,Christou EA,Poston B,Bojsen-Møller J,Enoka RM

    更新日期:2007-05-01 00:00:00

  • Electrophysiologic findings and grip strength after nerve injuries in the rat forelimb.

    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

    authors: Wang H,Sorenson EJ,Spinner RJ,Windebank AJ

    更新日期:2008-10-01 00:00:00

  • Age-related differences in absolute numbers of skeletal muscle satellite cells.

    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

    authors: Gibson MC,Schultz E

    更新日期:1983-10-01 00:00:00

  • Time and frequency domain analysis of acoustic signals from a human muscle.

    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>

    authors: Chen D,Durand LG,Bellemare F

    更新日期:1997-08-01 00:00:00

  • A prognostic model for the patient-reported outcome of surgical treatment of carpal tunnel syndrome.

    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

    authors: Bowman A,Rudolfer S,Weller P,Bland JDP

    更新日期:2018-12-01 00:00:00

  • Failure to detect HTLV-I by in situ hybridization in the biopsied muscles of viral carriers with polymyositis.

    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

    authors: Higuchi I,Nerenberg M,Yoshimine K,Yoshida M,Fukunaga H,Tajima K,Osame M

    更新日期:1992-01-01 00:00:00

  • Revised statistical motor unit number estimation in the Celecoxib/ALS trial.

    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

    authors: Shefner JM,Cudkowicz ME,Zhang H,Schoenfeld D,Jillapalli D,Northeast ALS Consortium.

    更新日期:2007-02-01 00:00:00

  • Neuromuscular responses of patients with multiple sclerosis.

    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

    authors: Rice CL,Vollmer TL,Bigland-Ritchie B

    更新日期:1992-10-01 00:00:00

  • Mononeuropathy multiplex associated with acute hepatitis B infection.

    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

    authors: Cohen JA,Wilborn SL,Rector WG Jr,Golitz LE

    更新日期:1990-03-01 00:00:00

  • Progressive motor neuron disease associated with electrical injury.

    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

    authors: Sirdofsky MD,Hawley RJ,Manz H

    更新日期:1991-10-01 00:00:00

  • A review of techniques employed to estimate the number of motor units in a muscle.

    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

    authors: Slawnych MP,Laszlo CA,Hershler C

    更新日期:1990-11-01 00:00:00

  • Effects of resistance training on force steadiness and common drive.

    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

    authors: Beck TW,Defreitas JM,Stock MS,Dillon MA

    更新日期:2011-02-01 00:00:00

  • Electrophysiology in chronic inflammatory demyelinating polyneuropathy with IGIV.

    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

    authors: Bril V,Katzberg H,Donofrio P,Banach M,Dalakas MC,Deng C,Hanna K,Hartung HP,Hughes RA,Latov N,Merkies IS,van Doorn PA,ICE Study Group.

    更新日期:2009-04-01 00:00:00

  • Relative contributions of neural mechanisms versus muscle mechanics in promoting finger extension deficits following stroke.

    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

    authors: Kamper DG,Harvey RL,Suresh S,Rymer WZ

    更新日期:2003-09-01 00:00:00

  • Effects of velocity on maximal torque production in poststroke hemiparesis.

    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

    authors: Lum PS,Patten C,Kothari D,Yap R

    更新日期:2004-12-01 00:00:00

  • Physiogenomic association of statin-related myalgia to serotonin receptors.

    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

    authors: Ruaño G,Thompson PD,Windemuth A,Seip RL,Dande A,Sorokin A,Kocherla M,Smith A,Holford TR,Wu AH

    更新日期:2007-09-01 00:00:00

  • Adult human masseter muscle fibers express myosin isozymes characteristic of development.

    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

    authors: Butler-Browne GS,Eriksson PO,Laurent C,Thornell LE

    更新日期:1988-06-01 00:00:00

  • Differential diagnosis of chronic dysimmune demyelinating polyneuropathies with and without anti-MAG antibodies.

    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

    authors: Isoardo G,Migliaretti G,Ciaramitaro P,Rota E,Poglio F,Tavella A,Paolasso I,Cavallo F,Bergamasco B,Cocito D

    更新日期:2005-01-01 00:00:00

  • Anti-cN1A antibodies do not correlate with specific clinical, electromyographic, or pathological findings in sporadic inclusion body myositis.

    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

    authors: Paul P,Liewluck T,Ernste FC,Mandrekar J,Milone M

    更新日期:2020-12-29 00:00:00