Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

abstract：:The voluntary discharge properties and axonal conduction velocity of single motor units were studied in patients with neuromuscular diseases with retained differentiation of the muscle fibers into type 1 and type 2, and in patients with late-onset hereditary distal myopathy in which muscle fibers have only intermediat...

journal_title：Muscle & nerve

authors： Borg J,Grimby L,Hannerz J

更新日期：1979-11-01 00:00:00

abstract：:Multifocal motor neuropathy (MMN) is now a well-defined purely motor multineuropathy characterized by the presence of multifocal partial motor conduction blocks (CB), frequent association with anti-GM1 IgM antibodies, and usually a good response to high-dose intravenous immunoglobulin (IVIg) therapy. However, several ...

journal_title：Muscle & nerve

authors： Nobile-Orazio E,Cappellari A,Priori A

更新日期：2005-06-01 00:00:00

abstract：:Exercise intolerance with myalgia, muscle stiffness, and recurrent rhabdomyolysis due to mutations in the DMD gene can mimic metabolic myopathies leading to delayed or inaccurate diagnoses. In this retrospective chart review, we report 3 unrelated boys with exertional myalgia, muscle stiffness, myoglobinuria, and norm...

journal_title：Muscle & nerve

authors： Veerapandiyan A,Shashi V,Jiang YH,Gallentine WB,Schoch K,Smith EC

更新日期：2010-12-01 00:00:00

abstract：INTRODUCTION:Muscle weakness and functional disability have not been evaluated in a population-based study of patients with myasthenia gravis (MG). METHODS:All patients with MG in a well-defined catchment area were identified in the Danish National Patient Registry. Of the 175 eligible patients, 90 participated and we...

journal_title：Muscle & nerve

authors： Vinge L,Jakobsen J,Andersen H

更新日期：2019-02-01 00:00:00

abstract：:We investigated the possible role of extracellular matrix in specifying the expression of superfast myosin during cat jaw muscle regeneration. Equal proportions of muscle tissue from jaw and limb were minced together after killing cellular elements from one source. We allowed the mince to regenerate in the bed of a fa...

journal_title：Muscle & nerve

authors： Hoh JF,Hughes S

更新日期：1991-05-01 00:00:00

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

authors： Mills KR,Kimiskidis V

更新日期：1996-08-01 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：INTRODUCTION:The 6-minute walk test (6MWT) is a well-established clinical assessment of functional endurance, validated as a measure of walking ability in spinal muscular atrophy (SMA). The current availability of disease-modifying therapies for SMA indicates a growing need for normative reference data to compare SMA p...

journal_title：Muscle & nerve

authors： Goodwin AM,Cornett KMD,McKay MJ,Burns J,Garber CE,De Vivo DC,Montes J

更新日期：2020-03-01 00:00:00

abstract：:Sucrose gap and intra-axonal recording techniques were used to identify the types of ion channels and inward rectification that are present in regenerated axons of adult (greater than 8 weeks) rat sciatic nerve after crush injury. In sucrose gap recordings, 4-aminopyridine (4-AP) led to slight broadening of the compou...

journal_title：Muscle & nerve

authors： Gordon TR,Kocsis JD,Waxman SG

更新日期：1991-07-01 00:00:00

abstract：:We propose a comprehensive model of spastic hypertonia based on clinical neurophysiology and validated using experimental data obtained from the pendulum test of the leg in 8 healthy volunteers and 15 spastic patients. This nonlinear computational model includes mechanical parameters and a stretch reflex representatio...

journal_title：Muscle & nerve

authors： Le Cavorzin P,Poudens SA,Chagneau F,Carrault G,Allain H,Rochcongar P

更新日期：2001-12-01 00:00:00

abstract：:High-density multichannel electromyography (EMG) recordings add spatial information to the temporal information content of the surface EMG (sEMG) signal. This study explores the potential value of such multichannel information at a single motor unit level, in particular for the improvement of motor unit number estimat...

journal_title：Muscle & nerve

authors： Blok JH,Van Dijk JP,Zwarts MJ,Stegeman DF

更新日期：2005-09-01 00:00:00

abstract：:Little attention has been paid to small-fiber dysfunction in carpal tunnel syndrome (CTS) although its symptoms are common. This study investigates vasomotor dysfunction, which is controlled by small nerve fibers, in patients with CTS compared with control subjects. Vasomotor function was quantified by measuring, with...

journal_title：Muscle & nerve

authors： Wilder-Smith EP,Fook-Chong S,Chew SE,Chow A,Guo Y

更新日期：2003-11-01 00:00:00

abstract：:Body components were measured noninvasively in patients with neuromuscular disease by using dual-energy X-ray absorptiometry (DXA), capable of separately analyzing fat, bone, and muscle content. In all patients with muscle atrophy of myogenic or neurogenic origin, muscle mass was markedly reduced. Although all three c...

journal_title：Muscle & nerve

authors： Kanda F,Fujii Y,Takahashi K,Fujita T

更新日期：1994-04-01 00:00:00

abstract：:Muscle-derived neurotrophins are thought to contribute to the adaptation of skeletal muscle to exercise, but the effects of brief exercise interventions on BDNF, NT-4/5, and trkB are not understood. RNA was extracted for RT-PCR from soleus and medial gastrocnemius of Sprague-Dawley rats exercised on a treadmill at spe...

journal_title：Muscle & nerve

authors： Ogborn DI,Gardiner PF

更新日期：2010-03-01 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：:Contractions of rat extensor digitorum longus (EDL, a fast muscle) and soleus (SOL, a slow muscle) muscles of different ages (1-4 weeks) were recorded in vitro with direct stimulation and at different temperatures (range 35-10 degrees C). Twitch tension in 4-week-old EDL muscle increased in cooling from 35 to 20 degre...

journal_title：Muscle & nerve

authors： Wylie SR,Ranatunga KW

更新日期：1987-11-01 00:00:00

abstract：:Twenty patients with neurogenic disorders, polymyositis, or muscular dystrophies were assessed clinically and by CT imaging of limb, limb girdle, and trunk muscles, using a standard protocol. On each side of these patients 26 movements were graded by the MRC scale, and 20 muscles were assessed by CT imaging. The clini...

journal_title：Muscle & nerve

authors： Swash M,Brown MM,Thakkar C

更新日期：1995-07-01 00:00:00

abstract：:Tenotomy is a commonly encountered clinical entity, whether traumatic or iatrogenic. This article reviews the response of skeletal muscle to tenotomy. The changes are subdivided into molecular, architectural, and functional categories. Architectural disruption of the muscle includes myofiber disorganization, central c...

journal_title：Muscle & nerve

authors： Jamali AA,Afshar P,Abrams RA,Lieber RL

更新日期：2000-06-01 00:00:00

abstract：:In order to assess the clinical utility of trigemino-facial reflexes in lower facial muscles, we studied perioral reflexes to mechanical and electrical stimulation in 13 patients with spasmodic dysphonia and orofacial dyskinesia and in 7 healthy subjects. Mechanical stimulation of the upper lip of all patients and ele...

journal_title：Muscle & nerve

authors： Topka H,Hallett M

更新日期：1992-09-01 00:00:00

abstract：:Epidemiological studies of the carpal tunnel syndrome have generally overlooked the possibility of a familial occurrence. A prospective study was undertaken to determine the prevalence and significance of a positive family history of carpal tunnel syndrome. Seventy-five of 253 women and 40 of 168 men with a confirmed ...

journal_title：Muscle & nerve

authors： Radecki P

更新日期：1994-03-01 00:00:00

abstract：INTRODUCTION:Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are considered part of the same pathological spectrum. There is an increased risk of ALS in patients who have had melanoma. The risk of FTLD in melanoma (or cancer) patients is unknown. We aimed to study if C9ORF72 expansion i...

journal_title：Muscle & nerve

authors： Tábuas-Pereira M,Almendra L,Almeida MR,Durães J,Pinho A,Matos A,Negrão L,Geraldo A,Santana I

更新日期：2019-03-01 00:00:00

abstract：INTRODUCTION:Piriformis muscle syndrome (PS) is a disorder encompassing a constellation of symptoms, including buttock and hip pain. In this study we aimed to assess the value of ultrasound (US) in the diagnosis of PS. METHODS:Thirty-three clinically diagnosed PS patients and 26 healthy volunteers underwent a clinical...

journal_title：Muscle & nerve

authors： Zhang W,Luo F,Sun H,Ding H

更新日期：2019-04-01 00:00:00

abstract：:We report the case of a 55-year-old man with non-small-cell lung cancer who underwent radiation, chemotherapy with carbotaxol and paclitaxel, and left upper lobe removal 2 years prior to evaluation. He was referred for disabling orthostatic hypotension (113/69 mm Hg supine and 66/47 mm Hg standing after 10 minutes) wi...

journal_title：Muscle & nerve

authors： Peltier AC,Black BK,Raj SR,Donofrio P,Robertson D,Biaggioni I

更新日期：2010-03-01 00:00:00

abstract：:Patients with peripheral neuropathy frequently suffer from positive sensory (pain and paresthesias) and motor (muscle cramping) symptoms even in the recovery phase of the disease. To investigate the pathophysiology of increased axonal excitability in peripheral nerve regeneration, we assessed the temporal and spatial ...

journal_title：Muscle & nerve

authors： Nakata M,Baba H,Kanai K,Hoshi T,Sawai S,Hattori T,Kuwabara S

更新日期：2008-06-01 00:00:00

abstract：INTRODUCTION:Patients with self-limited statin-related myopathy improve spontaneously when statins are stopped. In contrast, patients with statin-associated autoimmune myopathy have autoantibodies recognizing 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase (HMGCR) and usually require immunosuppressive therapy to contr...

journal_title：Muscle & nerve

authors： Floyd JS,Brody JA,Tiniakou E,Psaty BM,Mammen A

更新日期：2016-06-01 00:00:00

abstract：:Type 1 diabetes mellitus (T1DM) is associated with a peripheral neuropathy that reduces nerve conduction velocity. This may impair high motor-unit discharge frequencies (MUDF), decrease muscle activation, and curtail the ability to sustain repetitive contractile tasks. We examined (1) whether MUDF, the contractile pro...

journal_title：Muscle & nerve

authors： Almeida S,Riddell MC,Cafarelli E

更新日期：2008-02-01 00:00:00

abstract：INTRODUCTION:UDP N-acetylglucosamine2-epimerase/N-acetylmannosamine-kinase (GNE) gene mutations can cause mostly autosomal-recessive myopathy with juvenile-onset known as hereditary inclusion-body myopathy (HIBM). METHODS:We describe a family of a patient showing an unusual HIBM with both vacuolar myopathy and myositi...

journal_title：Muscle & nerve

authors： Chakravorty S,Berger K,Arafat D,Nallamilli BRR,Subramanian HP,Joseph S,Anderson ME,Campbell KP,Glass J,Gibson G,Hegde M

更新日期：2019-07-01 00:00:00

abstract：:We report three patients with inflammatory myopathy who presented clinically with weakness and wasting of only one limb. The myopathy progressed over 6 months and 5 years, respectively, in two patients and was stable after 8 years in the third patient. One patient had a skin rash. Serum CK was elevated in the two pati...

journal_title：Muscle & nerve

authors： Lederman RJ,Salanga VD,Wilbourn AJ,Hanson MR,Dudley AW Jr

更新日期：1984-02-01 00:00:00

abstract：INTRODUCTION:Myotonic dystrophy, or dystrophia myotonica (DM), is characterized by prominent muscle wasting and weakness as well as delayed muscle relaxation resulting from persistent electrical discharges. METHODS:We hypothesized heterogeneity among muscles in degree of weakness and myotonia in an expanded [(CUG)(250...

journal_title：Muscle & nerve

authors： Moyer M,Berger DS,Ladd AN,Van Lunteren E

更新日期：2011-06-01 00:00:00

abstract：:A 62-year-old woman with axonal Guillain-Barré syndrome developed weakness and urinary retention simultaneously. The retention failed to recover for 10 months even after she regained the ability to walk. The patient exhibited no postural hypotension. Videourodynamics showed that the retention was caused not by the bla...

journal_title：Muscle & nerve

authors： Sakakibara R,Uchiyama T,Tamura N,Kuwabara S,Asahina M,Hattori T

更新日期：2007-01-01 00:00:00