A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.

abstract：INTRODUCTION:We sought to translate, culturally adapt, and assess the Arabic version of the 15-item myasthenia gravis quality-of-life revised scale (MGQOL15R). METHODS:We assessed reliability with Cronbach α; reproducibility with intraclass correlation coefficient (ICC); validity with Spearman correlations for myasthe...

journal_title：Muscle & nerve

authors： Alanazy MH,Abuzinadah AR,Muayqil T

更新日期：2018-04-01 00:00:00

abstract：:The clinical and neurophysiological features of multifocal motor neuropathy (MMN) indicate selective involvement of motor axons, but pathological abnormalities in sensory axons suggest a more widespread disease process. The present study was undertaken to determine whether the focal abnormalities are associated with w...

journal_title：Muscle & nerve

authors： Cappelen-Smith C,Kuwabara S,Lin CS,Burke D

更新日期：2002-12-01 00:00:00

abstract：INTRODUCTION:GNE myopathy is a rare recessive myopathy caused by mutations in the GNE gene. It is mainly a distal myopathy with relative sparing of the quadriceps muscle. METHODS:Patients with distal myopathies from Kuwait were examined and tested for the Middle Eastern GNE gene founder mutation, p.M743T. Patients wer...

journal_title：Muscle & nerve

authors： Alrohaif H,Pogoryelova O,Al-Ajmi A,Aljeryan LA,Alrashidi NH,Alefasi SA,Urtizberea A,Lochmüller H,Bastaki L

更新日期：2018-11-01 00:00:00

abstract：:A treatment has been developed to alleviate muscle weakness in murine dystrophy. Cultured myoblasts from genetically normal mouse embryos were injected into the right soleus of 20-day-old normal or dystrophic mice. Hosts and donors were immunocompatible but exhibited different genotype markers. Donor cells produced GP...

journal_title：Muscle & nerve

authors： Law PK,Goodwin TG,Wang MG

更新日期：1988-06-01 00:00:00

abstract：:False motor points (FMPs) can occur in intrinsic foot or hand muscles, causing spuriously prolonged distal motor latencies by misrepresenting the compound muscle action potential (CMAP) onset. We investigated the motor point (MP) and possible FMPs in abductor hallucis (AH) by three methods: (1) electrophysiologic mapp...

journal_title：Muscle & nerve

authors： Del Toro DR,Park TA

更新日期：1996-09-01 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

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

更新日期：2011-07-01 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

authors： Sirdofsky MD,Hawley RJ,Manz H

更新日期：1991-10-01 00:00:00

abstract：INTRODUCTION:Previous studies of limb-girdle muscular dystrophy type 2A (LGMD2A) patients in many countries have suggested a heterogeneous genetic and clinical spectrum, but the genotypes and phenotypes of Chinese LGMD2A patients remain unclear. METHODS:We directly screened calpain-3 (CAPN3) in 18 Chinese Han subjects...

journal_title：Muscle & nerve

authors： Luo SS,Xi JY,Zhu WH,Zhao CB,Lu JH,Lin J,Wang Y,Lu J,Qiao K

更新日期：2012-11-01 00:00:00

abstract：:Isoproterenol (ISO), a potent beta-adrenoreceptor agonist, was found to interfere with the development and progression of hamster hereditary polymyopathy. Cytoprotection involved both skeletal and heart muscles with reduced myofibrillar degeneration, phagocytosis, and an unusual scarring process rarely seen at this st...

journal_title：Muscle & nerve

authors： Jasmin G,Proschek L

更新日期：1983-07-01 00:00:00

abstract：:We previously reviewed the presentation, initial clinical course, and electrodiagnostic features of children with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). We now report the long-term follow-up of 12 children with idiopathic CIDP, and compare these to 62 adults with idiopathic CIDP. Children of...

journal_title：Muscle & nerve

authors： Simmons Z,Wald JJ,Albers JW

更新日期：1997-12-01 00:00:00

abstract：:The muscle-specific helix-loop-helix (HLH) transcription factors myoD, myogenin, MRF4, and myf-5 are called the muscle regulatory factor family (MRF). Levels of MRFs are strongly regulated by muscle electrical activity and are thought to control downstream genes that are important for muscle phenotype such as the acet...

journal_title：Muscle & nerve

authors： Carlsen H,Gundersen K

更新日期：2000-09-01 00:00:00

abstract：:We report electrophysiological findings of conduction along peripheral sensory fibers in 64 patients with amyotrophic lateral sclerosis. Distribution of the values of action potential amplitudes and conduction velocities of peripheral afferent fibers were significantly lower than in normal age-matched controls. Sensor...

journal_title：Muscle & nerve

authors： Mondelli M,Rossi A,Passero S,Guazzi GC

更新日期：1993-02-01 00:00:00

abstract：:Intraoperative electrophysiological monitoring of the spinal cord has traditionally been done by recording somatosensory evoked potentials (SEP). There is a risk that SEPs can be unaltered when significant injury to the anterior spinal cord has occurred. The purpose of this report is to describe a simple technique for...

journal_title：Muscle & nerve

authors： Phillips LH 2nd,Blanco JS,Sussman MD

更新日期：1995-03-01 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：INTRODUCTION:Evaluation of phrenic neuropathy (PN) with phrenic nerve conduction studies (PNCS) is associated with false negatives. Visualization of diaphragmatic muscle twitch with diaphragm ultrasound (DUS) when performing PNCS may help to solve this problem. METHODS:We performed bilateral, simultaneous DUS-PNCS in ...

journal_title：Muscle & nerve

authors： Johnson NE,Utz M,Patrick E,Rheinwald N,Downs M,Dilek N,Dogra V,Logigian EL

更新日期：2014-05-01 00:00:00

abstract：INTRODUCTION:To evaluate the sensitivity of electrophysiologic assessments, we compared F-waves and motor and sensory nerve conduction studies (MNCS and SNCS) in patients with diabetes mellitus (DM). METHODS:We tested median, ulnar, tibial, and fibular nerves in 132 DM patients divided into those with and without clin...

journal_title：Muscle & nerve

authors： Pan H,Jian F,Lin J,Chen N,Zhang C,Zhang Z,Ding Z,Wang Y,Cui L,Kimura J

更新日期：2014-06-01 00:00:00

abstract：BACKGROUND:In adult males, cross-sectional area (CSA) for type II muscle fibers is generally larger than for type I fibers. In this cross-sectional study the aim was to compare sex-related CSAs of various muscle fiber types during childhood-to-adulthood transition. METHODS:Percutaneous biopsy samples were obtained fro...

journal_title：Muscle & nerve

authors： Esbjörnsson ME,Dahlström MS,Gierup JW,Jansson EC

更新日期：2020-12-21 00:00:00

abstract：INTRODUCTION:We aimed to investigate whether sonographic peripheral cross-sectional nerve area (CSA) and progranulin (PGRN), a neuritic growth factor, are related to each other and whether they interact to predict clinical and paraclinical measures in amyotrophic lateral sclerosis (ALS). METHODS:We included 55 ALS pat...

journal_title：Muscle & nerve

authors： Schreiber S,Debska-Vielhaber G,Abdulla S,Machts J,Schreiber F,Kropf S,KÖrtvelyessy P,KÖrner S,Kollewe K,Petri S,Dengler R,Kunz WS,Nestor PJ,Vielhaber S

更新日期：2018-02-01 00:00:00

abstract：INTRODUCTION:Contradictory reports of the myosin heavy chain (MHC) composition of adult human suprahyoid muscles leave unresolved the extent to which these muscles express developmental and unconventional MHC. METHODS:By immunohistochemistry, separation sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PA...

journal_title：Muscle & nerve

authors： Luo Q,Douglas M,Burkholder T,Sokoloff AJ

更新日期：2014-04-01 00:00:00

abstract：:Measurements were done on the biceps muscles of 6 healthy volunteers to record simultaneously the surface electromyogram (EMG) and vibromyogram (VMG) by means of a piezoelectric device (accelerometer). The VMG is generated by mechanical waves due to the contraction mechanism and often measured as sound. The frequency ...

journal_title：Muscle & nerve

authors： Zwarts MJ,Keidel M

更新日期：1991-08-01 00:00:00

abstract：:The term thoracic outlet syndrome (TOS) refers to a heterogeneous group of disorders, all of which have in common compression of one or more neurovascular elements at some point within the thoracic outlet. Of the five disorders comprising this group, four have all of the features expected of a syndrome-a recognized co...

journal_title：Muscle & nerve

authors： Ferrante MA

更新日期：2012-06-01 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：INTRODUCTION:We studied the functional effects of combined strength and aerobic anti-gravity training in severely affected patients with Becker and Limb-Girdle muscular dystrophies. METHODS:Eight patients performed 10-week progressive combined strength (squats, calf raises, lunges) and aerobic (walk/run, jogging in pl...

journal_title：Muscle & nerve

authors： Jensen BR,Berthelsen MP,Husu E,Christensen SB,Prahm KP,Vissing J

更新日期：2016-08-01 00:00:00

abstract：INTRODUCTION:When treating ocular myasthenia gravis (MG), the risk/benefit profile of corticosteroids is unclear, and acetylcholinesterase inhibitors are not very effective. We examined the efficacy of topical naphazoline in the treatment of myasthenic blepharoptosis. METHODS:Sixty MG patients with blepharoptosis (32 ...

journal_title：Muscle & nerve

authors： Nagane Y,Utsugisawa K,Suzuki S,Masuda M,Shimizu Y,Utsumi H,Uchiyama S,Suzuki N

更新日期：2011-07-01 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

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

abstract：INTRODUCTION:Our aim in this study was to determine whether intravenous immunoglobulin (IVIg) or plasma exchange (PLEx) for treatment of neurologic disease is a trigger for thrombotic events. METHODS:Using administrative data from 2005 to 2014, we identified index admissions for thrombotic events. We performed case-cr...

journal_title：Muscle & nerve

authors： Jin PH,Shin SC,Dhamoon MS

更新日期：2020-09-01 00:00:00

abstract：INTRODUCTION:Mitochondria are semi-autonomous organelles that are able to change their shape, size, location, and number inside the living cell. Mitochondrial division is an extremely important process, because cell survival depends on there being an adequate number of mitochondria in each cell. The dynamics of these o...

journal_title：Muscle & nerve

authors： Fidziańska A,Glinka Z

更新日期：2012-07-01 00:00:00

abstract：:The myogenic regulatory factor MyoD plays an important role in embryonic and adult skeletal muscle growth. Even though it is best known as a marker for activated satellite cells, it is also expressed in myonuclei, and its expression can be induced by a variety of different conditions. Several model systems have been u...

journal_title：Muscle & nerve

authors： Legerlotz K,Smith HK

更新日期：2008-09-01 00:00:00

abstract：:To elucidate whether the frontal components of scalp somatosensory evoked potentials (SEPs) depend on the type of peripheral input, we compared scalp SEPs in response to electrical stimuli applied to: (i) the proximal phalanx of the thumb, involving both deep and cutaneous afferents; and (ii) the distal phalanx of the...

journal_title：Muscle & nerve

authors： Restuccia D,Valeriani M,Barba C,Le Pera D,Tonali P,Mauguière F

更新日期：1999-07-01 00:00:00

abstract：:A patient with neuromyotonia, peripheral neuropathy and myasthenia gravis (MG) is described. Neurophysiological studies, at rest, showed continuous muscle discharges of motor unit action potentials (MUAPs) in duplets and triplets. Motor (MNCV) and sensory (SNCV) nerve conduction studies revealed mild axonal and demyel...

journal_title：Muscle & nerve

authors： Martinelli P,Patuelli A,Minardi C,Cau A,Riviera AM,Dal Pozzo F

更新日期：1996-04-01 00:00:00