Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.

abstract：:Physicians have an ethical and legal duty to obtain patients' informed consent before ordering testing and treatment. Informed consent encompasses informed refusal, the correlative right of patients to refuse tests and therapies they do not want. A patient's informed consent requires adequate information, capacity to ...

journal_title：Muscle & nerve

authors： Bernat JL

更新日期：2001-05-01 00:00:00

abstract：INTRODUCTION:The aim of this study was to determine the patterns of responses for the electromyographic (EMG) amplitude vs. oxygen uptake ( V̇O2 ) relationships from muscles of the quadriceps femoris and hamstrings during incremental treadmill running. METHODS:Twelve men volunteered to perform an incremental test to e...

journal_title：Muscle & nerve

authors： Camic CL,Kovacs AJ,Enquist EA,McLain TA,Hill EC

更新日期：2015-12-01 00:00:00

abstract：:The purpose of this study was to determine whether initial muscle length influenced the extent of isometric force deficit following 20 in vitro lengthening contractions of the soleus muscle from Fischer 344 rats. Force deficit was evaluated following one of five protocols: (1) lengthening contractions from optimal mus...

journal_title：Muscle & nerve

authors： Gosselin LE,Burton H

更新日期：2002-06-01 00:00:00

abstract：:The neuromuscular junction (NMJ) is a complex structure that serves to efficiently communicate the electrical impulse from the motor neuron to the skeletal muscle to signal contraction. Over the last 200 years, technological advances in microscopy allowed visualization of the existence of a gap between the motor neuro...

journal_title：Muscle & nerve

authors： Hughes BW,Kusner LL,Kaminski HJ

更新日期：2006-04-01 00:00:00

abstract：INTRODUCTION:Low-intensity electrical stimuli of digital nerves may generate a double peak potential (DPp), composed of a cathodal (caAP) and an anodal (anAP) potential in orthodromic recordings. METHODS:We studied the effects on caAP and anAP of stimuli of variable intensity, duration, and frequency. We also applied ...

journal_title：Muscle & nerve

authors： Leote J,Pereira P,Cabib C,Cipullo F,Valls-Sole J

更新日期：2016-06-01 00:00:00

abstract：:As applied to skeletal muscle, stem cell therapy is a reincarnation of myoblast transfer therapy that has resulted from recent advances in the cell biology of skeletal muscle. Both strategies envisage the reconstruction of damaged muscle from its precursors, but stem cell therapy employs precursors that are earlier in...

journal_title：Muscle & nerve

authors： Partridge TA

更新日期：2003-02-01 00:00:00

abstract：:The objective of this study was to examine the contribution of lower motor neuron (LMN) and upper motor neuron (UMN) dysfunction to weakness and impaired motor control in 27 patients with amyotrophic lateral sclerosis (ALS). Isometric strength was measured by dorsiflexor maximum voluntary contraction force (MVC). LMN ...

journal_title：Muscle & nerve

authors： Kent-Braun JA,Walker CH,Weiner MW,Miller RG

更新日期：1998-06-01 00:00:00

abstract：:We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. The patient was homozygous for a T-to-C transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG) to a proline (CCG). This is the first mutation to be described in exon 3 and i...

journal_title：Muscle & nerve

authors： Gamez J,Fernandez R,Bruno C,Andreu AL,Cervera C,Navarro C,Schwartz S,Dimauro S

更新日期：1999-08-01 00:00:00

abstract：:Both high and low body mass index (BMI) have been reported as risk factors for ulnar neuropathy at the elbow (UNE), and a high BMI as a risk factor for carpal tunnel syndrome (CTS). To determine whether the extremes of BMI are risk factors for UNE or CTS, and whether BMI affects calculation of median and ulnar motor n...

journal_title：Muscle & nerve

authors： Landau ME,Barner KC,Campbell WW

更新日期：2005-09-01 00:00:00

abstract：:Force fluctuations in leg muscles increase after bedrest, perhaps due to modulation of the neural strategy that is specific to a muscle or common to agonist muscles. The purpose of this study was to examine the modulation of muscle activity and force fluctuations during steady contractions with variable involvement of...

journal_title：Muscle & nerve

authors： Yoshitake Y,Kouzaki M,Fukuoka H,Fukunaga T,Shinohara M

更新日期：2007-06-01 00:00:00

abstract：:The site of the recording electrode influences the amplitude of the compound muscle action potential (CMAP) and its variation over a length of nerve. The effects of large electrodes on this source of intraindividual variability were assessed. Right median nerves of 20 healthy subjects were studied, and recordings made...

journal_title：Muscle & nerve

authors： van Dijk JG,Tjon-a-Tsien A,van der Kamp W

更新日期：1995-01-01 00:00:00

abstract：INTRODUCTION:Hereditary transthyretin (hATTR) amyloidosis is a progressive, degenerative disease, with peripheral neuropathy, cardiomyopathy, and other clinical manifestations. In this study we examine the impact of hATTR amyloidosis on quality of life (QOL). METHODS:Neuropathy-specific QOL, measured with the Norfolk ...

journal_title：Muscle & nerve

authors： Yarlas A,Gertz MA,Dasgupta NR,Obici L,Pollock M,Ackermann EJ,Lovley A,Kessler AS,Patel PA,White MK,Guthrie SD

更新日期：2019-08-01 00:00:00

abstract：:Muscle sodium-channel disorders cover a spectrum of rare myotonic diseases. In a German family with 17 affected individuals in four generations, we identified a heterozygous missense mutation in exon 24 A1481D (c.4442 C>A) of the voltage-gated sodium channel gene (SCN4A) alpha subunit. Phenotypes of 12 family members ...

journal_title：Muscle & nerve

authors： Schoser BG,Schröder JM,Grimm T,Sternberg D,Kress W

更新日期：2007-05-01 00:00:00

abstract：INTRODUCTION:In this study we aimed to determine the maximal isometric muscle strength of a healthy, normal-weight, pediatric population between 6 and 15 years of age using hand-held dynamometry to establish strength reference values. The secondary objective was determining the relationship between strength and anthrop...

journal_title：Muscle & nerve

authors： Escobar RG,Munoz KT,Dominguez A,Banados P,Bravo MJ

更新日期：2017-01-01 00:00:00

abstract：:To determine the contributions of neural and mechanical mechanisms to the limits in the range of motion (ROM) about a joint, we studied the effects of 30 sessions of static stretch training on the characteristics of the plantar-flexor muscles in 12 subjects. Changes in the maximal ankle dorsiflexion and the torque pro...

journal_title：Muscle & nerve

authors： Guissard N,Duchateau J

更新日期：2004-02-01 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：INTRODUCTION:While current exercise guidelines recommend progressive, high-intensity resistance training (RT) to promote muscle hypertrophy and strength gains, controversy exists regarding the efficacy of lighter-load RT. We compared 2 work-matched RT interventions that differed in training intensity. METHODS:Fifteen ...

journal_title：Muscle & nerve

authors： Alegre LM,Aguado X,Rojas-Martín D,Martín-García M,Ara I,Csapo R

更新日期：2015-01-01 00:00:00

abstract：INTRODUCTION:Autosomal dominant haploinsufficiency of GATA2 causes monocytopenia and natural killer cell lymphopenia, resulting in predisposition to mycobacterial, fungal, and viral infections. METHODS:Herein we report on the clinical, serologic, electrophysiologic, and pathologic evaluations of a 29-year-old woman wi...

journal_title：Muscle & nerve

authors： Kazamel M,Klein CJ,Benarroch EE,Patnaik MM,Tracy JA

更新日期：2018-01-01 00:00:00

abstract：:To enable the quantitative assessment of peripheral nerve structure and function, we determined the normal values for sural nerve hydration structure as measured by magnetic resonance proton imaging, and for neurological function with scores for neuropathic symptoms, signs, and nerve conduction properties. Normal huma...

journal_title：Muscle & nerve

authors： Eaton RP,Sibbitt WL Jr,Bicknell JM,King MK,Griffey RH,Sibbitt RR

更新日期：1993-03-01 00:00:00

abstract：:We describe a patient with a clinical disorder that resembled vasculitic neuropathy in which peripheral nerves were successively affected over several months, but without systemic involvement. An initial muscle biopsy near the involved nerves showed signs of nonspecific inflammation around the muscle and nerve fibers....

journal_title：Muscle & nerve

authors： Kuntzer T,Lobrinus JA,Janzer RC,Ghika J,Bogousslavsky J

更新日期：2000-10-01 00:00:00

abstract：:Earlier studies have shown that prior denervation of muscle prevents myotonia induced by 2,4-dichlorophenoxy acetic acid (2,4-D) both in vivo and in vitro. This work studied the effect of reinnervation on 2,4-D myotonia. Twenty Sprague-Dawley rats were injected with 2,4-D at specific intervals following unilateral sci...

journal_title：Muscle & nerve

authors： Al-Sulaiman A,Al-Rajeh S,Iyer V

更新日期：1986-05-01 00:00:00

abstract：:To determine which sensory nerve conduction studies (S-NCS) are helpful in detecting supraclavicular axon loss brachial plexopathies, we selected 53 cases (of 417 reviewed) in whom complicating factors were absent and which, by needle electrode examination findings, involved only a single "truncal" element (upper, mid...

journal_title：Muscle & nerve

authors： Ferrante MA,Wilbourn AJ

更新日期：1995-08-01 00:00:00

abstract：:Myophosphorylase deficiency (McArdle's disease) may present with episodic renal failure following exertion. We present a case of adult-onset myophosphorylase deficiency in which recurrent bouts of renal failure could not be associated with any exertional events until a tonic seizure was witnessed after the fourth epis...

journal_title：Muscle & nerve

authors： Walker AR,Tschetter K,Matsuo F,Flanigan KM

更新日期：2003-11-01 00:00:00

abstract：:Several monoclonal antibodies (mcAbs) elicited against the nicotinic acetylcholine receptor (AChR) from Torpedo react also with skeletal muscle AChR. Such mcAbs were used to define antigenic determinants on muscle AChR and to elucidate their effect on muscle AChR functions. Primary chick muscle cultures were used as a...

journal_title：Muscle & nerve

authors： Souroujon MC,Mochly-Rosen D,Gordon AS,Fuchs S

更新日期：1983-05-01 00:00:00

abstract：INTRODUCTION:Widespread musculoskeletal pain is a well-known symptom of myotonic dystrophy type 2 (DM2), but so far it has been addressed in only a few studies. METHODS:A postal survey for all traceable DM2 patients (n = 132) was conducted. A specific questionnaire, and severity and interference subscales of the Brief...

journal_title：Muscle & nerve

authors： Suokas KI,Haanpää M,Kautiainen H,Udd B,Hietaharju AJ

更新日期：2012-01-01 00:00:00

abstract：:Tarsal tunnel syndrome is relatively rare and the diagnosis may be difficult even though the etiologies for the syndrome are multiple. The symptoms are often vague but are usually burning pain and paresthesias in the toes and soles of the feet with nocturnal exacerbations. The physical examination may elicit a sensory...

journal_title：Muscle & nerve

authors： DeLisa JA,Saeed MA

更新日期：1983-11-01 00:00:00

abstract：:Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. We s...

journal_title：Muscle & nerve

authors： Luigetti M,Fabrizi GM,Madia F,Ferrarini M,Conte A,Delgrande A,Tonali PA,Sabatelli M

更新日期：2010-09-01 00:00:00

abstract：:The physiological and phenotypic properties of motor units in the cat soleus muscle were studied after 4 months of inactivity induced by spinal cord isolation (SI). The soleus of some SI cats were stimulated for 30 min/day during an isometric (SI-I), shortening (SI-S), or lengthening (SI-L) phase of a simulated step c...

journal_title：Muscle & nerve

authors： Zhong H,Roy RR,Hodgson JA,Talmadge RJ,Grossman EJ,Edgerton VR

更新日期：2002-08-01 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：INTRODUCTION:In this study we investigated the influence of gender and obesity on electrical current thresholds in an attempt to optimize the application of skeletal muscle electrical stimulation (ES) in clinical practice. METHODS:Thirty-two obese and 35 age-matched, non-obese men and women received graded ES to the q...

journal_title：Muscle & nerve

authors： Maffiuletti NA,Morelli A,Martin A,Duclay J,Billot M,Jubeau M,Agosti F,Sartorio A

更新日期：2011-08-01 00:00:00