Pseudometabolic presentation of dystrophinopathy due to a missense mutation.

abstract：:Large muscle genes are often sequenced using complementary DNA (cDNA) made from muscle messenger RNA (mRNA) to reduce the cost and workload associated with sequencing from genomic DNA. Two potential barriers are the availability of a frozen muscle biopsy, and difficulties in detecting nonsense mutations due to nonsens...

journal_title：Muscle & nerve

authors： Waddell LB,Monnier N,Cooper ST,North KN,Clarke NF

更新日期：2011-08-01 00:00:00

abstract：:The aim of this investigation was to define the boundaries of compound motor action potential (CMAP) dispersion, amplitude decay, and area decay in a control population and determine their dependence on external variables such as age and interelectrode distance. Measurements were made from median, ulnar, and common pe...

journal_title：Muscle & nerve

authors： Taylor PK

更新日期：1993-11-01 00:00:00

abstract：:This investigation analyzes the temporal characteristics of maximal depolarization times for three waveforms: end-plate spikes, fibrillation potentials, and positive sharp waves (PSWs) to provide support for the electrode initiation hypothesis of PSW induction. The maximal depolarization times for PSWs are documented ...

journal_title：Muscle & nerve

authors： Dumitru D,Santa Maria DL

更新日期：2007-09-01 00:00:00

abstract：:Statins can induce necrotizing or inflammatory myopathies in some patients. Increased major histocompatibility complex class I (MHC I) expression has been shown in muscle biopsies of statin-induced myopathy. Therefore, we investigated the effect of statins on the expression of MHC I in muscle cells. Using flow cytomet...

journal_title：Muscle & nerve

authors： Singh P,Kohr D,Kaps M,Blaes F

更新日期：2010-02-01 00:00:00

abstract：:An enzyme- and immunohistochemical study has been performed on human masseter muscle spindles. Antibodies selective for different myosin heavy chain (MHC) isoforms and M-band proteins (M-protein, myomesin, and MM-CK) were used. The expression of these proteins was determined in the different intrafusal fiber types. Nu...

journal_title：Muscle & nerve

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

更新日期：1994-01-01 00:00:00

abstract：:In order to further characterize and provide a possible mechanism for the asymmetrical involvement of forearm muscles in inclusion body myositis (IBM), we measured isometric hand and pinch grip strength, and forearm muscle girth on 15 IBM patients. Forearm muscle strength and girth were significantly greater on the do...

journal_title：Muscle & nerve

authors： Felice KJ,Relva GM,Conway SR

更新日期：1998-05-01 00:00:00

abstract：:The purpose of this long-term, open parallel-group, double-consent study of alternate-day, low-dose prednisone in 2-4-year-old patients with Duchenne muscular dystrophy (DMD) was to determine whether prednisone produces a beneficial effect when given earlier than usual. Muscle function was evaluated by timed tests, an...

journal_title：Muscle & nerve

authors： Merlini L,Cicognani A,Malaspina E,Gennari M,Gnudi S,Talim B,Franzoni E

更新日期：2003-02-01 00:00:00

abstract：:The inflammatory myopathies include dermatomyositis (DM), polymyositis (PM), and sporadic inclusion-body myositis (s-IBM). In DM, the main immune effector response appears to be humoral and directed against the microvasculature, whereas in both PM and s-IBM, cytotoxic CD8+ T cells and macrophages invade and eventually...

journal_title：Muscle & nerve

authors： Figarella-Branger D,Civatte M,Bartoli C,Pellissier JF

更新日期：2003-12-01 00:00:00

abstract：:The reliability of motor unit number estimation (MUNE) for assessment of the long-term course of ALS is dependent on the reproducibility of the technique. We report our results with the statistical method of MUNE on the ulnar nerve/hypothenar muscle in 16 ALS patients who were studied on 52 occasions. On each occasion...

journal_title：Muscle & nerve

authors： Olney RK,Yuen EC,Engstrom JW

更新日期：2000-02-01 00:00:00

abstract：INTRODUCTION:Sarcopenia likely comprises muscle fiber denervation and re-innervation, resulting in clustering of muscle fibers of the same type (classified by myosin heavy chain isoform composition). Development of methodology to quantitatively evaluate clustering of muscle fibers according to fiber type is necessary. ...

journal_title：Muscle & nerve

authors： Greising SM,Medina-Martínez JS,Vasdev AK,Sieck GC,Mantilla CB

更新日期：2015-07-01 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

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

更新日期：2007-02-01 00:00:00

abstract：INTRODUCTION:Two previously reported Norwegian patients with painful muscle cramps and giant myotonic discharges were genotyped and compared with those of members of 21 families harboring the same mutation. METHODS:Using primers specific for SCN4A and CLCN1, the DNA of the Norwegian family members was amplified and bi...

journal_title：Muscle & nerve

authors： Torbergsen T,Jurkat-Rott K,Stålberg EV,Løseth S,Hødneø A,Lehmann-Horn F

更新日期：2015-10-01 00:00:00

abstract：:We examined and compared a mechanosensitive human sural neuroma and a contralateral sural nerve collected simultaneously from a patient involved in a diabetic neuropathy research protocol. Using indirect immunofluorescence staining. we identified a striking difference in the content within axons of two neuropeptides, ...

journal_title：Muscle & nerve

authors： Zochodne DW,Theriault M,Sharkey KA,Cheng C,Sutherland G

更新日期：1997-07-01 00:00:00

abstract：INTRODUCTION:Diaphragm excursion measured via ultrasound may be an important imaging outcome measure of respiratory function. We developed a new method for measuring diaphragm movement and compared it to the more traditional M-mode method. METHODS:Ultrasound images of the right and left hemidiaphragms were collected t...

journal_title：Muscle & nerve

authors： Goutman SA,Hamilton JD,Swihart B,Foerster B,Feldman EL,Rubin JM

更新日期：2017-01-01 00:00:00

abstract：INTRODUCTION:Duchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren. Placebo arm data (N = 57) provided insight into the natural history of the 6-minute walk test (6MWT) and other endpoints. ...

journal_title：Muscle & nerve

authors： McDonald CM,Henricson EK,Abresch RT,Florence JM,Eagle M,Gappmaier E,Glanzman AM,PTC124-GD-007-DMD Study Group.,Spiegel R,Barth J,Elfring G,Reha A,Peltz S

更新日期：2013-09-01 00:00:00

abstract：:The effect of endurance training on muscle electrical activity during general exercise testing was investigated in physically active patients with chronic obstructive pulmonary disease (COPD). Before and after rehabilitation, patients performed identical incremental exercise tests. Pulmonary gas exchange, venous lacta...

journal_title：Muscle & nerve

authors： Gosselin N,Lambert K,Poulain M,Martin A,Préfaut C,Varray A

更新日期：2003-12-01 00:00:00

abstract：:The acronym CANOMAD encompasses chronic ataxic neuropathy combined with ophthalmoplegia, M protein, cold agglutinins, and anti-disialosyl antibodies.Herein we describe 2 patients presenting with progressive ataxic neuropathy who only developed ophthalmoplegia after a significant delay post-presentation, which in 1 cas...

journal_title：Muscle & nerve

authors： Kam C,Balaratnam MS,Purves A,Mills KR,Riordan-Eva P,Pollock S,Bodi I,Munro NA,Bennett DL

更新日期：2011-11-01 00:00:00

abstract：:To evaluate the effect of SMN2 copy number on disease severity in spinal muscular atrophy (SMA), we stratified 45 adult SMA patients based on SMN2 copy number (3 vs. 4 copies). Patients with 3 copies had an earlier age of onset and lower spinal muscular atrophy functional rating scale (SMAFRS) scores and were more lik...

journal_title：Muscle & nerve

authors： Elsheikh B,Prior T,Zhang X,Miller R,Kolb SJ,Moore D,Bradley W,Barohn R,Bryan W,Gelinas D,Iannaccone S,Leshner R,Mendell JR,Mendoza M,Russman B,Smith S,King W,Kissel JT

更新日期：2009-10-01 00:00:00

abstract：INTRODUCTION:Chorea-acanthocytosis (ChAc) is a rare autosomal recessive disease characterized by involuntary movements, seizures, cognitive changes, myopathy, and axonal neuropathy. METHODS:We report a patient who presented with gait impairment and dysarthria. Clinical and neurophysiological assessment disclosed upper...

journal_title：Muscle & nerve

authors： Neutel D,Miltenberger-Miltenyi G,Silva I,de Carvalho M

更新日期：2012-02-01 00:00:00

abstract：:Laser Doppler flowmetry (LDF) was conducted on familial amyloidotic polyneuropathy (FAP) patients and asymptomatic carriers of FAP. Vasoconstrictive responses in the 11 FAP patients tested, induced by deep inspiration, were markedly depressed compared with those of the healthy controls. The responses decreased with th...

journal_title：Muscle & nerve

authors： Ando Y,Araki S,Shimoda O,Kano T

更新日期：1992-04-01 00:00:00

abstract：INTRODUCTION:Antimitochondrial antibodies are autoantibodies detected in 90% of primary biliary cirrhosis (PBC) patients. Some PBC cases are complicated by myositis, which is difficult to confirm due to minimal histological evidence of inflammation in limb muscles. METHODS:Our aim was to determine the extent of inflam...

journal_title：Muscle & nerve

authors： Uenaka T,Kowa H,Sekiguchi K,Nagata K,Ohtsuka Y,Kanda F,Toda T

更新日期：2013-05-01 00:00:00

abstract：:Focal entrapment of the ulnar nerve occurs most frequently in the region of the elbow, at the ulnar groove or beneath the humeroulnar aponeurosis. Surgical treatment commonly involves transposition of the nerve anterior to the medial epicondyle, in the antecubital fossa. Symptoms may recur after surgery, and, to asses...

journal_title：Muscle & nerve

authors： Matei CI,Logigian EL,Shefner JM

更新日期：2004-10-01 00:00:00

abstract：:Patients with prior poliomyelitis may experience muscle function deterioration decades after onset of disease. The present study is aimed at describing electromyographic and morphometric evidence of muscular compensation and of on-going muscular instability. Ten subjects 42-62 years of age with onset of polio 25-52 ye...

journal_title：Muscle & nerve

authors： Einarsson G,Grimby G,Stålberg E

更新日期：1990-02-01 00:00:00

abstract：INTRODUCTION:The best treatment strategy for mild ulnar neuropathy at the elbow (UNE) is not known, due to lack of trials comparing surgery vs conservative treatment. METHODS:We recruited patients with clinical symptoms and signs of mild UNE and an electrophysiologically or sonographically confirmed diagnosis. Patient...

journal_title：Muscle & nerve

authors： Pompe SM,Schreuder T,Teunissen LL,Visser LH,Beekman R

更新日期：2020-08-01 00:00:00

abstract：INTRODUCTION:Statins have well-known benefits on cardiovascular mortality, though up to 15% of patients experience side effects. With guidelines from the American Heart Association, American College of Cardiology, and American Diabetes Association expected to double the number of statin users, the overall incidence of ...

journal_title：Muscle & nerve

authors： Rengo JL,Callahan DM,Savage PD,Ades PA,Toth MJ

更新日期：2016-02-01 00:00:00

abstract：:Because of their central role in muscle development and maintenance, MEF2 family members represent excellent candidate effectors of the muscle pathology in myotonic dystrophy (DM). We investigated the expression and alternative splicing of all four MEF2 genes in muscle from neuromuscular disorder (NMD) patients, inclu...

journal_title：Muscle & nerve

authors： Bachinski LL,Sirito M,Böhme M,Baggerly KA,Udd B,Krahe R

更新日期：2010-12-01 00:00:00

abstract：:It has been suggested that vibration causes small changes in muscle length, but to the best of our knowledge, these have yet to be demonstrated during whole-body vibration (WBV). This was an observational study to determine whether acute WBV would result in muscle lengthening. We hypothesized that acute WBV would incr...

journal_title：Muscle & nerve

authors： Cochrane DJ,Loram ID,Stannard SR,Rittweger J

更新日期：2009-09-01 00:00:00

abstract：:Repetitive nerve stimulation (RNS) is a standard diagnostic procedure in myasthenia gravis (MG). Although RNS sensitivity is highest in weak muscles, RNS is easier to perform in distal muscles that are often not affected. Twenty-five patients with MG were assessed to compare the sensitivity of RNS of the nasalis muscl...

journal_title：Muscle & nerve

authors： Niks EH,Badrising UA,Verschuuren JJ,Van Dijk JG

更新日期：2003-08-01 00:00:00

abstract：:Guillain-Barré syndrome (GBS) is an inflammatory polyradiculoneuropathy associated with numerous viral infections. Recently, there have been many case reports describing the association between coronavirus disease-2019 (COVID-19) and GBS, but much remains unknown about the strength of the association and the features ...

journal_title：Muscle & nerve

authors： Caress JB,Castoro RJ,Simmons Z,Scelsa SN,Lewis RA,Ahlawat A,Narayanaswami P

更新日期：2020-10-01 00:00:00

abstract：:Immersion of rat hemidiaphragms in Ca2+-free Krebs solution (KS) containing Ca2+ chelator in vitro leads to separation of basal lamina from the plasma membrane, as well as transient contracture and rapid loss of twitch response [calcium paradox (CP) phase 1]. Subsequent immersion in regular KS results in necrosis of m...

journal_title：Muscle & nerve

authors： Soza M,Karpati G,Carpenter S

更新日期：1986-03-01 00:00:00