Inflammatory demyelinating neuropathy heralding accelerated chediak-higashi syndrome.

abstract：:In a reported patient with myopathic carnitine deficiency, addition of exogenous carnitine to muscle homogenates failed to correct palmitate oxidation, and oral carnitine was of no clinical benefit. In a muscle biopsy from this patient, we found that, in contrast to the marked deficiency of free carnitine (3% of norma...

journal_title：Muscle & nerve

authors： Trevisan CP,Reichmann H,DeVivo DC,DiMauro S

更新日期：1985-10-01 00:00:00

abstract：INTRODUCTION:The risk of cancer in patients diagnosed with myotonic dystrophy (DM) is reported for the homogeneous Utah population. METHODS:Clinical data accessed from the largest Utah healthcare providers have been record-linked to the Utah Population Database, a population-based resource also linked to the Utah Canc...

journal_title：Muscle & nerve

authors： Abbott D,Johnson NE,Cannon-Albright LA

更新日期：2016-10-01 00:00:00

abstract：:Ultrasound (US) technique was applied to measure the thickness, cross-sectional area (CSA), and internal structure of the quadriceps muscle in 70- to 80-year-old endurance and power athletes and untrained men. Isometric knee extension strength was higher in the power athletes than in the other groups. The mean values ...

journal_title：Muscle & nerve

authors： Sipilä S,Suominen H

更新日期：1991-06-01 00:00:00

abstract：:The American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) developed guidelines to formalize the ethical standards that neuromuscular and electrodiagnostic (EDx) physicians should observe in their clinical and scientific activities. Neuromuscular and EDx medicine is a subspecialty of medicine that ...

journal_title：Muscle & nerve

authors： Abel NA,De Sousa EA,Govindarajan R,Mayer MP,Simpson DA

更新日期：2015-12-01 00:00:00

abstract：INTRODUCTION:Rapid and accessible methods for diagnosing diabetic polyneuropathy (DPN) have been developed, but not validated, in large cohorts of people with diabetes. METHODS:The performance of a point-of-care device (POCD) was studied in 168 patients with type 2 diabetes, estimating the sensitivity, specificity, po...

journal_title：Muscle & nerve

authors： Kural MA,Andersen ST,Andersen NT,Andersen H,Charles M,Finnerup NB,Jensen TS,Tankisi H

更新日期：2019-02-01 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：INTRODUCTION:Acetylcholine receptor (AChR) and striated muscle antibodies (StrAbs) are found frequently in myasthenia gravis (MG) patients with thymoma. In this study we aimed to determine the positive predictive value (PPV) and negative predictive value (NPV) of these antibodies for thymoma in patients with MG. METHO...

journal_title：Muscle & nerve

authors： Choi Decroos E,Hobson-Webb LD,Juel VC,Massey JM,Sanders DB

更新日期：2014-01-01 00:00:00

abstract：INTRODUCTION:The molecular mechanism of immune-mediated necrotizing myopathy (IMNM) remains unknown. Autophagy impairment, described in autoimmune diseases, is a key process in myofiber protein degradation flux and muscle integrity and has not been studied in IMNM. METHODS:Muscle biopsies from patients with IMNM (n = ...

journal_title：Muscle & nerve

authors： Girolamo F,Lia A,Annese T,Giannini M,Amati A,D'Abbicco D,Tampoia M,Virgintino D,Ribatti D,Serlenga L,Iannone F,Trojano M

更新日期：2019-09-01 00:00:00

abstract：:Median neuropathies proximal to the wrist are uncommon and usually result from penetrating injuries, fracture dislocation of the distal humerus, or compression by fibrous bands. A 66-year-old man suffered a comminuted fracture of the proximal humerus after a fall. Electrodiagnostic studies revealed a severe proximal m...

journal_title：Muscle & nerve

authors： Veilleux M,Richardson P

更新日期：2000-03-01 00:00:00

abstract：:Neuromuscular recovery after peripheral nerve lesion depends on the regeneration of severed axons that re-establish their functional connection with the denervated muscle. The aim of this study was to determine the effects of electrical stimulation (ES) on the neuromuscular recovery after nerve crush injury in rats. E...

journal_title：Muscle & nerve

authors： Gigo-Benato D,Russo TL,Geuna S,Domingues NR,Salvini TF,Parizotto NA

更新日期：2010-05-01 00:00:00

abstract：:Muscular dystrophy is defined as the progressive wasting of skeletal muscles that is caused by inherited or spontaneous genetic mutations. Next-generation sequencing has greatly improved the accuracy and speed of diagnosis for different types of muscular dystrophy. Advancements in depth of coverage, convenience, and o...

journal_title：Muscle & nerve

authors： Hightower RM,Alexander MS

更新日期：2018-01-01 00:00:00

abstract：:A review of our current knowledge of the etiology and pathogenesis of myasthenia gravis is presented, with particular emphasis on the immunological aspects of the disease. Part 1, published in the January/February issue of MUSCLE & NERVE, dealt with the clinical and genetic features of myasthenia gravis which led to t...

journal_title：Muscle & nerve

authors： Simpson JA

更新日期：1978-03-01 00:00:00

abstract：:Factors that affect the shape of the so-called "normal cloud" of the turns and amplitude measurements of the electromyographic interference pattern are investigated. As the force of voluntary contraction increases from low to moderate levels, the number of turns in the signal increase faster than does the mean amplitu...

journal_title：Muscle & nerve

authors： Nandedkar SD,Sanders DB,Stalberg EV

更新日期：1991-01-01 00:00:00

abstract：:Present studies evaluated the functions of thick and thin nerve fibers in carpal tunnel syndrome (CTS) to determine whether data of thin nerve fibers can add further information to the diagnosis of CTS. Measurements were performed in 22 patients and 16 age-matched control subjects. Motor and sensory nerve conduction, ...

journal_title：Muscle & nerve

authors： Lang E,Spitzer A,Pfannmüller D,Claus D,Handwerker HO,Neundörfer B

更新日期：1995-02-01 00:00:00

abstract：:This study was designed to compare electromyogram (EMG) and acoustic myogram (AMG) recordings of biceps brachii muscles in patients with spastic cerebral palsy (CP). The maximal voluntary contraction (MVC) in the CP group was approximately one half of that of the normal group even after being normalized by the muscle ...

journal_title：Muscle & nerve

authors： Akataki K,Mita K,Itoh K,Suzuki N,Watakabe M

更新日期：1996-10-01 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：: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：:Skeletal muscle cells are hypertrophied by mechanical stresses, but the underlying molecular mechanisms are not fully understood. Two signaling pathways, phosphatidylinositol 3-kinase (PI3K)/Akt to target of rapamycin (TOR) and extracellular signal-regulated kinase kinase (MEK) to extracellular signal-regulated kinase...

journal_title：Muscle & nerve

authors： Sasai N,Agata N,Inoue-Miyazu M,Kawakami K,Kobayashi K,Sokabe M,Hayakawa K

更新日期：2010-01-01 00:00:00

abstract：:Isometric contractile properties of human elbow flexor muscles were examined in 27 normal subjects (7 females and 20 males). Contractions of elbow flexors were elicited by application of electrical pulses to the biceps motor points. The tension development was recorded at the wrist with the elbow angle fixed at 90 deg...

journal_title：Muscle & nerve

authors： Ismail HM,Ranatunga KW

更新日期：1981-05-01 00:00:00

abstract：:As caveolin-3 deficiencies may explain persistent hyper-CK-emia, we performed CAV3 gene mutation analysis and immunohistochemistry for caveolin-3 in 31 patients with idiopathic hyper-CK-emia. In 2 of 29 patients who donated blood, variants in the CAV3 gene were detected. Although immunohistochemical analysis strongly ...

journal_title：Muscle & nerve

authors： Reijneveld JC,Ginjaar IB,Frankhuizen WS,Notermans NC

更新日期：2006-11-01 00:00:00

abstract：:The pathophysiology of hepatic neuropathy is poorly understood, but membrane depolarization due to a toxic inhibition of oxidative metabolism has been proposed. We investigated the relationship between nerve excitability properties, nerve dysfunction, and liver function in 11 pretransplant patients, the majority of wh...

journal_title：Muscle & nerve

authors： Ng K,Lin CS,Murray NM,Burroughs AK,Bostock H

更新日期：2007-06-01 00:00:00

abstract：:Two sisters presented with distal weakness and their muscle biopsy was dystrophic. This distal muscular dystrophy has an autosomal recessive inheritance and its features are somewhat different from the more common autosomal dominant distal muscular dystrophy and include: a) onset in early adult life; b) involvement of...

journal_title：Muscle & nerve

authors： Scoppetta C,Vaccario ML,Casali C,Di Trapani G,Mennuni G

更新日期：1984-07-01 00:00:00

abstract：:Calpain 3 (C3) is the only muscle-specific member of the calcium-dependent protease family. Although neither its physiological function nor its in vivo substrates are known, C3 must be an important protein for normal muscle function as mutations in the C3 gene result in limb-girdle muscular dystrophy type 2A. Previous...

journal_title：Muscle & nerve

authors： Guyon JR,Kudryashova E,Potts A,Dalkilic I,Brosius MA,Thompson TG,Beckmann JS,Kunkel LM,Spencer MJ

更新日期：2003-10-01 00:00:00

abstract：:A family is described in which five males have late-onset facial weakness, dysarthria, dysphagia, and slowly progressive proximal weakness. Electrodiagnostic studies and muscle biopsy were compatible with spinal muscular atrophy. This family appears quite similar to several previously reported families with late-onset...

journal_title：Muscle & nerve

authors： Ringel SP,Lava NS,Treihaft MM,Lubs ML,Lubs HA

更新日期：1978-07-01 00:00:00

abstract：BACKGROUND:Diagnosing cervical radiculopathy (CR) can be difficult because of symptomatic overlap with peripheral neuropathies. In this retrospective observational study, we aimed to determine whether short-tau inversion recovery (STIR) magnetic resonance imaging (MRI) sequences are useful for detecting signs of denerv...

journal_title：Muscle & nerve

authors： Yoshida T,Suwazono S,Sueyoshi T,Izumi Y,Nodera H

更新日期：2020-12-13 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：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：:An enzyme- and immunohistochemical study has been performed on human masseter muscle spindles. Antibodies selective for different myosin heavy chain (MHC) isoforms and M-band proteins (M-protein, myomesin, and MM-CK) were used. The expression of these proteins was determined in the different intrafusal fiber types. Nu...

journal_title：Muscle & nerve

authors： Eriksson PO,Butler-Browne GS,Thornell LE

更新日期：1994-01-01 00:00:00

abstract：:The majority of patients with MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) have an A-->G mutation at nucleotide 3243 in mitochondrial transfer (t)RNA. To date there have only been 10 reported cases of MELAS syndrome in patients with a T-->C mutation at position 3271...

journal_title：Muscle & nerve

authors： Tarnopolsky MA,Maguire J,Myint T,Applegarth D,Robinson BH

更新日期：1998-01-01 00:00:00

abstract：:Intensive care unit-acquired weakness (ICU-AW) causes significant morbidity and impairment in critically ill patients. Recent advances in neuromuscular ultrasound (NMUS) allow evaluation of neuromuscular pathology early in critical illness. Here we review application of ultrasound in ICU-AW. MEDLINE-indexed articles w...

journal_title：Muscle & nerve

authors： Bunnell A,Ney J,Gellhorn A,Hough CL

更新日期：2015-11-01 00:00:00