Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency.

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：: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：:Modern neuromuscular electrodiagnosis (EDX) and neuromuscular ultrasound (NMUS) require a universal language for effective communication in clinical practice and research and, in particular, for teaching young colleagues. Therefore, the AANEM and the IFCN have decided to publish a joint glossary as they feel the need ...

journal_title：Muscle & nerve

authors： Dengler R,de Carvalho M,Shahrizaila N,Nodera H,Vucic S,Grimm A,Padua L,Schreiber S,Kneiser MK,Hobson-Webb LD,Boon AJ,Smith BE,Litchy WJ,Li Y,Lenihan M,Thompson VB,Stalberg E,Sanders DB,Kincaid JC

更新日期：2020-07-01 00:00:00

abstract：INTRODUCTION:Herein we present an exploratory study of orofacial function in children with congenital myotonic dystrophy (CDM) vs. healthy controls. METHODS:We evaluated 41 children with CDM and 29 healthy controls for speech and swallow function and for lingual and labial strength. RESULTS:The Iowa Oral Performance ...

journal_title：Muscle & nerve

authors： Berggren KN,Hung M,Dixon MM,Bounsanga J,Crockett B,Foye MD,Gu Y,Campbell C,Butterfield RJ,Johnson NE

更新日期：2018-09-01 00:00:00

abstract：:Diseases involving chronic inflammation can lead to prolonged exposure of skeletal muscle to inflammatory cytokines such as tumor necrosis factor alpha (TNFalpha), which may contribute to the skeletal muscle weakness seen in these conditions. In this study we examined the effect of a prolonged exposure to TNFalpha on ...

journal_title：Muscle & nerve

authors： van Kann LN,Bakker AJ

更新日期：2007-02-01 00:00:00

abstract：:The possibility has been raised that in familial periodic paralysis, the relatively large depolarization of the muscle fiber membrane seen during periods of paralysis might be attributable to a reduction in activity of the electrogenic Na(+)-K+ pump. The theoretical analysis presented here shows that although such hyp...

journal_title：Muscle & nerve

authors： Martin AR,Levinson SR

更新日期：1985-06-01 00:00:00

abstract：:The effects of hyperbaric exposure with high oxygen concentration on glucose and insulin levels and skeletal muscle-fiber properties were investigated in type 2 diabetic Goto-Kakizaki rats. Five-week-old rats were exposed to a hyperbaric environment (1.25 atmospheric pressure) with a high oxygen concentration (36%) fo...

journal_title：Muscle & nerve

authors： Yasuda K,Adachi T,Gu N,Matsumoto A,Matsunaga T,Tsujimoto G,Tsuda K,Ishihara A

更新日期：2007-03-01 00:00:00

abstract：:We used Southern blot analysis and the polymerase chain reaction to analyze the tissue distribution of multiple mitochondrial DNA (mtDNA) deletions in a 45-year-old man with familial mitochondrial myopathy-Southern blots showed two major types of abnormal mtDNA with approximately 4- and 8-kilobase deletions in the ske...

journal_title：Muscle & nerve

authors： Kawashima S,Ohta S,Kagawa Y,Yoshida M,Nishizawa M

更新日期：1994-07-01 00:00:00

abstract：INTRODUCTION:We quantified intraneural blood flow (INBF) in 18 patients with end-stage kidney disease (ESKD) and examined its relationship with nerve size, neuropathy severity, and nerve excitability parameters. METHODS:Sonographic measurements of the median nerve were performed at the same site before and after hemod...

journal_title：Muscle & nerve

authors： Borire AA,Arnold R,Pussell BA,Kwai NC,Visser LH,Simon NG,Kiernan MC,Krishnan AV

更新日期：2018-02-01 00:00:00

abstract：:Patients (n = 41) with isolated weakness of the eyelids or extraocular muscles, who had been referred for single fiber electromyography (SFEMG), were followed up after 4 to 24 months, At follow-up the patients were classified as "definite ocular myasthenia gravis" (MG), "definite other diagnosis," or "no definite diag...

journal_title：Muscle & nerve

authors： Rouseev R,Ashby P,Basinski A,Sharpe JA

更新日期：1992-03-01 00:00:00

abstract：:Sialorrhea is frequently a socially disabling symptom in patients with bulbar amyotrophic lateral sclerosis (ALS). In this open-label prospective study, we report the effect of botulinum toxin A (Botox) injection into the parotid glands in 10 patients with bulbar ALS and socially disabling sialorrhea. We applied three...

journal_title：Muscle & nerve

authors： Verma A,Steele J

更新日期：2006-08-01 00:00:00

abstract：INTRODUCTION:Anecdotal reports from families and care providers suggest a wide variation in services received by individuals with Duchenne/Becker muscular dystrophy (DBMD). METHODS:We documented the type and frequency of health services received by individuals with DBMD using the Muscular Dystrophy Surveillance Tracki...

journal_title：Muscle & nerve

authors： Pandya SK,Campbell KA,Andrews JG,Meaney FJ,Ciafaloni E

更新日期：2016-02-01 00:00:00

abstract：INTRODUCTION:Mutations in the guanosine diphosphate-mannose pyrophosphorylase-B gene (GMPPB) have been identified in congenital muscular dystrophies, limb-girdle muscular dystrophy (LGMD2T), and congenital myasthenic syndromes (CMSs); overall, 41 patients have been described. METHODS:Two patients presented with a myas...

journal_title：Muscle & nerve

authors： Montagnese F,Klupp E,Karampinos DC,Biskup S,Gläser D,Kirschke JS,Schoser B

更新日期：2017-08-01 00:00:00

abstract：:Muscle fatigue occurs in many neuromuscular diseases, including the muscular dystrophies, and it contributes to a loss of functional capacity and reduced quality of life for affected patients. An improvement in fatigue resistance has been observed in diaphragm muscles of mdx mice following insulin-like growth factor-I...

journal_title：Muscle & nerve

authors： Gregorevic P,Plant DR,Lynch GS

更新日期：2004-09-01 00:00:00

abstract：:Mutations of the valosin-containing protein gene (VCP) are responsible for autosomal-dominant hereditary inclusion-body myopathy associated with frontotemporal dementia and Paget's disease of bone. We identified the p.R155C missense mutation in the VCP gene segregating in an Italian family with three affected siblings...

journal_title：Muscle & nerve

authors： Gidaro T,Modoni A,Sabatelli M,Tasca G,Broccolini A,Mirabella M

更新日期：2008-01-01 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：:The present study was conducted to determine the effects of acute overload exercise on mitochondrial DNA and the structure of skeletal muscles. Rats were forced to run for 20 min until reaching complete exhaustion. We detected the large-scale deletion (7052 bp) of mitochondrial DNA by the nested polymerase chain react...

journal_title：Muscle & nerve

authors： Sakai Y,Iwamura Y,Hayashi J,Yamamoto N,Ohkoshi N,Nagata H

更新日期：1999-02-01 00:00:00

abstract：:We report a patient with clinical vermiform motor activity, muscle cramps, delayed relaxation of grip, and continuous motor unit discharges who developed mild symmetric symptoms in the upper extremities following a viral infection. Treatment with carbamazepine produced considerable symptomatic improvement. Needle elec...

journal_title：Muscle & nerve

authors： Tandan R,Fries TJ

更新日期：1988-03-01 00:00:00

abstract：INTRODUCTION:The ability to distinguish between normal thymus, thymic hyperplasia, and thymoma should aid clinical management and decision making in patients with myasthenia gravis (MG). We sought to determine the accuracy of routine imaging in predicting thymic pathology. METHODS:We retrospectively analyzed records o...

journal_title：Muscle & nerve

authors： Klimiec E,Quirke M,Leite MI,Hilton-Jones D

更新日期：2018-02-09 00:00:00

abstract：INTRODUCTION:Duration of training to reliably measure nerve cross-sectional area with ultrasound is unknown. METHODS:A retrospective review was performed of ultrasound data, acquired and recorded by 2 examiners-an expert and either a trainee with 2 months (novice) or a trainee with 12 months (experienced) of experienc...

journal_title：Muscle & nerve

authors： Garcia-Santibanez R,Dietz AR,Bucelli RC,Zaidman CM

更新日期：2018-02-01 00:00:00

abstract：:Forty patients with polymyositis or dermatomyositis underwent detailed electromyographic evaluation. The paraspinal muscles of all patients were examined, as were several extremity muscles. The distribution of fibrillation potentials (FPs) in different muscles is discussed. FPs were most frequent in paraspinal muscles...

journal_title：Muscle & nerve

authors： Streib EW,Wilbourn AJ,Mitsumoto H

更新日期：1979-01-01 00:00:00

abstract：INTRODUCTION:The main goal of this study was to determine the contribution of the anterior forearm muscles to the compound muscle action potential (CMAP) recorded from the extensor digitorum (ED) after proximal stimulation. METHODS:Twenty-one healthy volunteers and 114 patients with compressive and traumatic radial ne...

journal_title：Muscle & nerve

authors： Khodulev VI,Nechipurenko NI,Shcharbina NY

更新日期：2020-09-01 00:00:00

abstract：:If anti-GM1 antibody plays a role in the axonal damage in Guillain-Barré syndrome, the common entrapment sites may be preferentially involved with evidence of axonal dysfunction. To assess this hypothesis, we studied nerve conduction across the cubital tunnel in 44 patients. Abnormal amplitude reduction of compound mu...

journal_title：Muscle & nerve

authors： Kuwabara S,Mori M,Ogawara K,Mizobuchi K,Hattori T,Koga M,Yuki N

更新日期：1999-07-01 00:00:00

abstract：:Loss of skeletal muscle mass (sarcopenia) is a major contributor to disability in old age. We used two-dimensional gel electrophoresis and mass spectrometry to screen for changes in proteins, and cDNA profiling to assess transcriptional regulations in the gastrocnemius muscle of adult (4 months) and aged (30 months) m...

journal_title：Muscle & nerve

authors： Altun M,Edström E,Spooner E,Flores-Moralez A,Bergman E,Tollet-Egnell P,Norstedt G,Kessler BM,Ulfhake B

更新日期：2007-08-01 00:00:00

abstract：:Injuries to the lumbosacral plexus during labor and delivery have been reported in the literature for years, but have lacked electrophysiologic testing to substantiate the location of the nerve injury. We report 2 cases with comprehensive electrophysiologic testing which localizes the site of this obstetrical paralysi...

journal_title：Muscle & nerve

authors： Feasby TE,Burton SR,Hahn AF

更新日期：1992-08-01 00:00:00

abstract：:Chronic inflammatory demyelinating polyneuropathy (CIDP) presents in rare instances with focal or multifocal upper limb involvement. We reviewed the clinical and electromyographic (EMG) characteristics of 10 such patients (UL-CIDP) and compared them with patients with typical generalized CIDP (G-CIDP) and multifocal m...

journal_title：Muscle & nerve

authors： Gorson KC,Ropper AH,Weinberg DH

更新日期：1999-06-01 00:00:00

abstract：INTRODUCTION:Skin-derived precursor cells (SKPs) are neural crest progenitor cells that can attain a Schwann cell-like phenotype through in vitro techniques (SKP-SCs). We hypothesized that SKP-SCs could produce mature myelin and, in doing so, facilitate the recovery of a focal demyelination injury. METHODS:We unilater...

journal_title：Muscle & nerve

authors： Grochmal J,Dhaliwal S,Stys PK,van Minnen J,Midha R

更新日期：2014-08-01 00:00:00

abstract：:The findings in two cases of congenital myasthenia investigated by intercostal muscle biopsy are presented. The first case, a 16-year-old boy, showed reduced miniature endplate potential amplitude and normal 125I-alpha-bungarotoxin binding to postsynaptic acetylcholine receptors. Muscle biopsy and endplate ultrastruct...

journal_title：Muscle & nerve

authors： Lecky BR,Morgan-Hughes JA,Murray NM,Landon DN,Wray D,Prior C

更新日期：1986-03-01 00:00:00

abstract：:Prolonged exposure to hand-transmitted vibration can cause debilitating neural and vascular dysfunction in humans. It is unclear whether the pathophysiology involves simultaneous or sequential injury of arteries and nerves. The mechanism of vibration injury was investigated in a rat tail model, containing arteries and...

journal_title：Muscle & nerve

authors： Curry BD,Bain JL,Yan JG,Zhang LL,Yamaguchi M,Matloub HS,Riley DA

更新日期：2002-04-01 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