Defective oxidative metabolism of myodystrophic skeletal muscle mitochondria.

abstract：INTRODUCTION:Twenty-six patients with clinical symptoms of adult onset carnitine palmitoyltransferase II (CPTII) deficiency were examined. All patients had skeletal muscle CPTII enzyme activity levels indicative of heterozygosity for CPT2 mutations, however sequence analysis identified no pathogenic mutations within th...

journal_title：Muscle & nerve

authors： Isackson PJ,Sutton KA,Hostetler KY,Vladutiu GD

更新日期：2013-02-01 00:00:00

abstract：INTRODUCTION:This case report focuses on identifying novel mutations in juvenile motor neuron disease and emphasizes the significance of whole exome sequencing (WES). METHODS:We report a 13-year-old Hispanic boy with rapidly progressive weakness, muscle atrophy, tremor, and tongue fasciculation, along with upper motor...

journal_title：Muscle & nerve

authors： Agarwal S,Potocki L,Collier TR,Woodbury SL,Adesina AM,Jones J,Lotze TE

更新日期：2016-04-01 00:00:00

abstract：:Patients with an idiopathic increase in serum creatine kinase (CK) levels (hyper-CK-emia) have a benign prognosis, but symptoms may be disabling in daily life. Previous studies have suggested that physical exercise increases the severity of complaints in these patients. We studied whether maximal and submaximal bouts ...

journal_title：Muscle & nerve

authors： Reijneveld JC,Te Boekhorst BC,Zonderland ML,Kalmijn S,Notermans NC

更新日期：2002-12-01 00:00:00

abstract：:Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal-recessive disorder characterized by selective atrophy and progressive weakness of proximal girdle muscles. LGMD2A, the most prevalent form of LGMD, is caused by mutations in the CAPN3 gene that encodes the skeletal muscle-specific member of the calpain fa...

journal_title：Muscle & nerve

authors： Hermanová M,Zapletalová E,Sedlácková J,Chrobáková T,Letocha O,Kroupová I,Zámecník J,Vondrácek P,Mazanec R,Maríková T,Vohánka S,Fajkusová L

更新日期：2006-03-01 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：INTRODUCTION:The involvement of small myelinated fibers in the early stages of diabetic neuropathy (DN) has been suggested, but few objective methods can identify minimal neuropathy. The purpose of this study was to determine whether there are differences in contact heat evoked potential (CHEP) parameters between healt...

journal_title：Muscle & nerve

authors： Wong MC,Chung JW

更新日期：2011-12-01 00:00:00

abstract：:Spatial distribution of motor endplates affects the shape of the electrical activity recorded from muscle. In order to provide information for realistic models of action potential propagation within muscles, we assembled three-dimensional maps of the motor endplates of the rat medial gastrocnemius (MGM) and lateral ga...

journal_title：Muscle & nerve

authors： Prodanov D,Thil MA,Marani E,Delbeke J,Holsheimer J

更新日期：2005-09-01 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：:Muscle cramps are difficult to study scientifically because of their spontaneity and unpredictability. Various laboratory techniques to induce muscle cramps have been explored but the best technique for inducing cramps is unclear. Electrical stimulation appears to be the most reliable, but there is a perception that i...

journal_title：Muscle & nerve

authors： Miller KC,Knight KL

更新日期：2007-11-01 00:00:00

abstract：:To determine whether skeletal muscle oxidative metabolism is impaired in multiple sclerosis (MS), phosphorus magnetic resonance spectroscopy was used to measure the rate of intramuscular phosphocreatine (PCr) resynthesis following exercise in MS and controls. Thirteen MS patients underwent intermittent isometric tetan...

journal_title：Muscle & nerve

authors： Kent-Braun JA,Sharma KR,Miller RG,Weiner MW

更新日期：1994-08-01 00:00:00

abstract：:Two brothers with the childhood variant of type II glycogenosis (GSD-IIb) treated with nutrition and exercise therapy (NET) from a young age showed an unusually benign course. Muscle biopsy from the older brother, which showed characteristic vacuolar glycogen accumulation at age 2, had reverted to normal by age 16. A ...

journal_title：Muscle & nerve

authors： Slonim AE,Bulone L,Minikes J,Hays AP,Shanske S,Tsujino S,DiMauro S

更新日期：2006-04-01 00:00:00

abstract：:Although the molecular defect causing Becker muscular dystrophy (BMD) has been identified, the biochemical mechanisms that lead to muscle necrosis remain unclear. Exercise-related muscle metabolism in 9 mildly affected BMD patients was assessed by muscle 31-phosphorus magnetic resonance spectroscopy ((31)P MRS) during...

journal_title：Muscle & nerve

authors： Tosetti M,Linsalata S,Battini R,Volpi L,Cini C,Presciutti O,Muntoni F,Cioni G,Siciliano G

更新日期：2011-11-01 00:00:00

abstract：INTRODUCTION:Pretreatment with pyridostigmine bromide (PB) of human intercostal muscle fibers exposed to the irreversible acetylcholinesterase (AChE) inhibitor soman was investigated. METHODS:Muscles were pretreated with 3 × 10(-6) M PB or saline for 20 minutes, then exposed to 10(-7) M soman for 10 minutes. RESULTS:...

journal_title：Muscle & nerve

authors： Maselli RA,Henderson JD,Ng J,Follette D,Graves G,Wilson BW

更新日期：2011-04-01 00:00:00

abstract：:Ion channels are complex proteins that span the lipid bilayer of the cell membrane, where they orchestrate the electrical signals necessary for normal function of the central nervous system, peripheral nerve, and both skeletal and cardiac muscle. The role of ion channel defects in the pathogenesis of numerous disorder...

journal_title：Muscle & nerve

authors： Kleopa KA,Barchi RL

更新日期：2002-09-01 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：:Clinical testing for neuromuscular dysfunction is supported by an extensive amount of excellent basic information about normal and abnormal subcellular physiology and ultrastructure. This information provides an essential frame of reference for describing the rationale of single-fiber electromyography (SFEMG). SFEMG i...

journal_title：Muscle & nerve

authors： Keesey JC

更新日期：1989-08-01 00:00:00

abstract：:The aim of this work was to determine the role of peripheral facial muscle reinnervation in the central reorganization of the blink reflex (BR) after hypoglossal-facial anastomosis (HFA). An electrophysiological study was performed on seven patients who underwent HFA after facial nerve transection during surgery for a...

journal_title：Muscle & nerve

authors： Bernat I,Vitte E,Lamas G,Soudant J,Willer JC,Tankéré F

更新日期：2006-03-01 00:00:00

abstract：:Muscle weakness in myasthenia gravis is due to autoantibody-induced loss of functional acetylcholine receptors (AChR). About 15% of myasthenia gravis patients, however, do not have detectable anti-AChR antibodies. To investigate the effect of their plasma immunoglobulins on neuromuscular transmission, mice were inject...

journal_title：Muscle & nerve

authors： Burges J,Vincent A,Molenaar PC,Newsom-Davis J,Peers C,Wray D

更新日期：1994-12-01 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:Duchenne muscular dystrophy (DMD) is a degenerative disease of skeletal, respiratory, and cardiac muscles caused by defects in the dystrophin gene. More recently, brain involvement has been verified. Mitochondrial dysfunction and oxidative stress may underlie the pathophysiology of DMD. In this study we ev...

journal_title：Muscle & nerve

authors： Comim CM,Hoepers A,Ventura L,Freiberger V,Dominguini D,Mina F,Mendonça BP,Scaini G,Vainzof M,Streck EL,Quevedo J

更新日期：2016-01-01 00:00:00

abstract：:The goal of this study was to estimate the accuracy of concentric-needle single-fiber electromyography (CN-SFEMG) for the diagnosis of myasthenia gravis (MG). A consecutive series of patients referred for CN-SFEMG was evaluated by an investigator blinded to the results of CN-SFEMG in order to determine the presence or...

journal_title：Muscle & nerve

authors： Benatar M,Hammad M,Doss-Riney H

更新日期：2006-08-01 00:00:00

abstract：INTRODUCTION:Conduction block (CB) has been included in the Rajabally criteria for axonal Guillain-Barré syndrome (GBS). Because the nerve roots may be affected early in GBS, detection of proximal CB by the triple stimulation technique (TST) can be useful. METHODS:We describe TST findings in 2 patients who presented w...

journal_title：Muscle & nerve

authors： Taieb G,Grapperon AM,Duclos Y,Franques J,Labauge P,Renard D,Yuki N,Attarian S

更新日期：2015-12-01 00:00:00

abstract：:n-Hexane neuropathy was studied in 20 workers exposed for prolonged periods to this solvent, and with urinary 2,5-hexanedione concentrations exceeding the biological exposure index recommended by the American Conference of Governmental Industrial Hygienists (5 mg/L) with a mean of 11.02 mg/L (range 5.3-24.2 mg/L). Alt...

journal_title：Muscle & nerve

authors： Pastore C,Marhuenda D,Marti J,Cardona A

更新日期：1994-09-01 00:00:00

abstract：:Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being considerably more severe. This pair illustrates the clinical variabil...

journal_title：Muscle & nerve

authors： Bouldin AA,Parisi MA,Laing N,Patterson K,Gospe SM Jr

更新日期：2007-02-01 00:00:00

abstract：INTRODUCTION:The p.A1156T mutation alters the function of the voltage-gated sodium channel Nav1.4 on the muscle sarcolemma, causing a channelopathy without overt myotonia or periodic paralysis but with myalgic pain. METHODS:A postal survey was conducted to assess the prevalence and characteristics of pain and related ...

journal_title：Muscle & nerve

authors： Suokas K,Palmio J,Sandell S,Udd B,Hietaharju A

更新日期：2018-06-01 00:00:00

abstract：INTRODUCTION:Despite the existence of guidelines, painful neuropathy is often inappropriately treated. We sought to determine the effectiveness of a clinical decision support system on guideline-recommended medication use. METHODS:We randomized neurology providers, stratified by subspecialty, to a best practice alert ...

journal_title：Muscle & nerve

authors： Reynolds EL,Burke JF,Banerjee M,Callaghan BC

更新日期：2020-05-01 00:00:00

abstract：:In recent years, the following ideas have been expressed: (a) that all cases of a discrete, inherited neuromuscular syndrome should prove to be due to a single biochemical defect, (b) that any single biochemical defect should give rise only to one syndrome, and (c) that an enzymatic defect cannot give rise to a diseas...

journal_title：Muscle & nerve

authors： Kark RA,Becker DM

更新日期：1981-01-01 00:00:00

abstract：:At least 50 disease-causing mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1), almost all of which originate from Caucasian families, have been identified. We investigated a Japanese family with Thomsen's myotonia congenita that included 16 affected individuals (8 men and 8 women) through fi...

journal_title：Muscle & nerve

authors： Sasaki R,Ito N,Shimamura M,Murakami T,Kuzuhara S,Uchino M,Uyama E

更新日期：2001-03-01 00:00:00

abstract：:The F-wave was used to estimate motor nerve conduction velocity (MNCV) along the proximal segment of the fastest axons of the deep peroneal nerve (anterior-horn cells to knee) in 13 patients with amyotrophic lateral sclerosis (ALS) and in 21 age- and sex-matched control subjects. Measurements were based on the shortes...

journal_title：Muscle & nerve

authors： Argyropoulos CJ,Panayiotopoulos CP,Scarpalezos S

更新日期：1978-11-01 00:00:00

abstract：:Reliable unipedal balance is fundamental to safe ambulation. Accordingly, older persons with peripheral neuropathy (PN), who are at increased risk for falls, demonstrate impaired unipedal balance. To explore the relationship between afferent function and unipedal balance, frontal plane proprioceptive thresholds at the...

journal_title：Muscle & nerve

authors： Son J,Ashton-Miller JA,Richardson JK

更新日期：2009-02-01 00:00:00