An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.

abstract：:The inflammatory myopathies include dermatomyositis (DM), polymyositis (PM), and sporadic inclusion-body myositis (s-IBM). In DM, the main immune effector response appears to be humoral and directed against the microvasculature, whereas in both PM and s-IBM, cytotoxic CD8+ T cells and macrophages invade and eventually...

journal_title：Muscle & nerve

authors： Figarella-Branger D,Civatte M,Bartoli C,Pellissier JF

更新日期：2003-12-01 00:00:00

abstract：INTRODUCTION:Pretreatment with pyridostigmine bromide (PB) of human intercostal muscle fibers exposed to the irreversible acetylcholinesterase (AChE) inhibitor soman was investigated. METHODS:Muscles were pretreated with 3 × 10(-6) M PB or saline for 20 minutes, then exposed to 10(-7) M soman for 10 minutes. RESULTS:...

journal_title：Muscle & nerve

authors： Maselli RA,Henderson JD,Ng J,Follette D,Graves G,Wilson BW

更新日期：2011-04-01 00:00:00

abstract：:We report the case of a 27-year-old man treated for bilateral optic neuritis 5 and 3 years before who within a few months developed sensorimotor disorders of the arms and legs characterized by asymmetric distribution and distal prominence. In addition to sensorimotor defects, which were particularly marked in the left...

journal_title：Muscle & nerve

authors： Péréon Y,Jardel J,Guillon B,Guihéneuc P

更新日期：1994-11-01 00:00:00

abstract：:This investigation analyzes the temporal characteristics of maximal depolarization times for three waveforms: end-plate spikes, fibrillation potentials, and positive sharp waves (PSWs) to provide support for the electrode initiation hypothesis of PSW induction. The maximal depolarization times for PSWs are documented ...

journal_title：Muscle & nerve

authors： Dumitru D,Santa Maria DL

更新日期：2007-09-01 00:00:00

abstract：:An electrophysiologic study of peripheral nerve excitability was performed in patients with hyperkalemic periodic paralysis (HPP) and in normal controls. It was found that a marked degree of neural hyperexcitability existed in all patients with HPP who showed cold sensitivity. The results suggest involvement of the ne...

journal_title：Muscle & nerve

authors： Segura RP,Petajan JH

更新日期：1979-07-01 00:00:00

abstract：INTRODUCTION:Muscle growth and regeneration are processes closely associated with proliferation, differentiation, and apoptosis of muscle cells. Death-associated protein 1 (DAP1) has been identified as a negative regulator of autophagy. Little is known about the function of DAP1 in the regulation of myogenesis and sate...

journal_title：Muscle & nerve

authors： Shin J,McFarland DC,Strasburg GM,Velleman SG

更新日期：2013-11-01 00:00:00

abstract：:In a woman with a slowly progressive adult onset proximal myopathy, muscle biopsy showed storage of PAS positive material in type 1 fibers. This material consisted of a branched chain polysaccharide associated with a mucoprotein. No abnormality of glycogen-pathway enzymes was detected. This suggested that this polysac...

journal_title：Muscle & nerve

authors： Thompson AJ,Swash M,Cox EL,Ingram DA,Gray A,Schwartz MS

更新日期：1988-04-01 00:00:00

abstract：:Normative values of muscle fiber conduction velocity depend on the conditions in which conduction velocity is measured due to the velocity recovery function (VRF) of muscle fibers. In this study the VRF of the compound muscle action potential (CMAP) was assessed following doublet and triplet stimulation in order to in...

journal_title：Muscle & nerve

authors： Kamavuako EN,Hennings K,Farina D

更新日期：2007-08-01 00:00:00

abstract：:The electrical and mechanical properties of paralyzed human thenar muscles were measured in response to supramaximal stimulation of the median nerve in individuals with chronic cervical spinal cord injury. These data were compared to those recorded from control muscles. Spontaneous motor unit activity was common in pa...

journal_title：Muscle & nerve

authors： Thomas CK

更新日期：1997-07-01 00:00:00

abstract：INTRODUCTION:Stroke-related changes in maximal dynamic hip flexor muscle fatigability may be more relevant functionally than isometric hip flexor fatigability. METHODS:Ten chronic stroke survivors performed 5 sets of 30 hip flexion maximal dynamic voluntary contractions (MDVC). A maximal isometric voluntary contractio...

journal_title：Muscle & nerve

authors： Kuhnen HR,Rybar MM,Onushko T,Doyel RE,Hunter SK,Schmit BD,Hyngstrom AS

更新日期：2015-03-01 00:00:00

abstract：:The aim of this study was to estimate normal jitter in voluntarily activated extensor digitorum communis (EDC) and orbicularis oculi (OOc) muscles using a disposable concentric needle electrode (CNE). The EDC of 67 normal subjects (22 males and 45 females, mean age 35.5 +/- 10.2 years) and the OOc of 50 normal subject...

journal_title：Muscle & nerve

authors： Kouyoumdjian JA,Stålberg EV

更新日期：2008-06-01 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：:Ultrastructural, biochemical, and electrophysiological analyses were done on 12-14-month-old mice deficient for myelin-associated glycoprotein (MAG) to further characterize the neuropathy that develops as they age. Electron microscopy demonstrated normal myelin compaction and axonal degeneration in a large number of m...

journal_title：Muscle & nerve

authors： Weiss MD,Luciano CA,Quarles RH

更新日期：2001-10-01 00:00:00

abstract：:The effect of endurance training on muscle electrical activity during general exercise testing was investigated in physically active patients with chronic obstructive pulmonary disease (COPD). Before and after rehabilitation, patients performed identical incremental exercise tests. Pulmonary gas exchange, venous lacta...

journal_title：Muscle & nerve

authors： Gosselin N,Lambert K,Poulain M,Martin A,Préfaut C,Varray A

更新日期：2003-12-01 00:00:00

abstract：:Clinicopathologic findings from two golden retriever dogs with an inherited, progressive, degenerative muscle disease that were studied until 27 and 40 months of age are described. Initial clinical signs included stilted gait and simultaneous advancement of their pelvic limbs. Further gait restriction and muscle hyper...

journal_title：Muscle & nerve

authors： Kornegay JN,Tuler SM,Miller DM,Levesque DC

更新日期：1988-10-01 00:00:00

abstract：:Twenty-four adult albino rats were injected with tetanus toxin into the right gastrocnemius muscle and then subjected to sustained dorsiflexion of the right ankle joint for 2 to 14 days. Histologic examinations of the soleus after this procedure showed myopathic changes, characterized by variations in fiber diameters,...

journal_title：Muscle & nerve

authors： Mizuno Y,Chou SM

更新日期：1990-10-01 00:00:00

abstract：:The spectrum of neuromuscular disorders among intensive care unit (ICU) patients has shifted toward disorders acquired within the ICU and away from "traditional" neuromuscular disorders that lead to ICU admission. We sought to assess this spectrum by determining the causes and relative frequencies of neuromuscular dis...

journal_title：Muscle & nerve

authors： Lacomis D,Petrella JT,Giuliani MJ

更新日期：1998-05-01 00:00:00

abstract：:The intramembrane particle (IMP) profile of control and dystrophic (Bio 14.6) hamster cardiac muscle plasma membrane was assessed in freeze-fracture replicas to determine whether this animal model of muscular dystrophy exhibits the same membrane characteristics found in skeletal muscle from other more thoroughly studi...

journal_title：Muscle & nerve

authors： Graham KA,Shivers RR,Atkinson BG

更新日期：1984-09-01 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:Measurement precision and accuracy of spinal reflexes plays an essential role in the clinical neurological examination. Reflexes are conventionally assessed either electromyographically or with rating scales. In this study we compared objective kinematic T-reflex and subjective assessments of patellar refl...

journal_title：Muscle & nerve

authors： Dafkin C,Green A,Kerr S,Veliotes D,McKinon W

更新日期：2013-01-01 00:00:00

abstract：:Evaluation of the precise molecular dynamics of endplate maintenance and reorganization has been limited by the lack of available in vitro preparations. We describe an organ culture preparation of mouse diaphragm muscle which permits long-term maintenance of muscle viability. Spontaneous fibrillations, increased level...

journal_title：Muscle & nerve

authors： Wetzel DM,Salpeter MM

更新日期：1991-10-01 00:00:00

abstract：:We measured distal sympathetic and vagal function in 73 consecutive patients with diabetic neuropathy seen at the Mayo Autonomic Reflex Laboratory. Postganglionic sympathetic failure measured proximally within the foot occurred as commonly as vagal failure (58% and 55%, respectively) and occurred much more frequently ...

journal_title：Muscle & nerve

authors： Low PA,Zimmerman BR,Dyck PJ

更新日期：1986-09-01 00:00:00

abstract：:Jitter after axonal microstimulation in the masseter muscle was studied in 30 consecutive patients (12 women) with myasthenia gravis (MG). Patients' mean age was 42.3 (12-75), median disease duration was 3 months (1-72), and onset was ocular (15 cases), oculobulbar (7), bulbar (6), or generalized (2). There were 23 ne...

journal_title：Muscle & nerve

authors： Khuraibet AJ,Rousseff RT,Behbehani R,al-Shubaili AF,Khan RA

更新日期：2008-04-01 00:00:00

abstract：:The degree of upper extremity active range of motion provided by an admittance control robot compared with a commercially available passive arm support for individuals with DMD who have limited arm function was investigated in this study. The reachable workspace evaluation was used to assess active range of motion pro...

journal_title：Muscle & nerve

authors： Corrigan MC,Foulds RA

更新日期：2020-06-01 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：: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：:A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed-up and reviewed. Hypogonadism included delayed sexual maturation, primary amenorrhea, early menopause, and testicular atrophy. Cataracts, cerebellar ataxia, neuropathy, hypoacusia, pes cavus, tremor, pa...

journal_title：Muscle & nerve

authors： Melberg A,Arnell H,Dahl N,Stålberg E,Raininko R,Oldfors A,Bakall B,Lundberg PO,Holme E

更新日期：1996-12-01 00:00:00

abstract：:Based on the known trophic effects of growth hormone (GH) on nerve and muscle 75 patients with ALS were treated for up to 18 months with synthetic human growth hormone (Protropin) or a placebo. The course of ALS was assessed serially using a quantitative (TQNE) neuromuscular and manual exam (MRC) and laboratory chemis...

journal_title：Muscle & nerve

authors： Smith RA,Melmed S,Sherman B,Frane J,Munsat TL,Festoff BW

更新日期：1993-06-01 00:00:00

abstract：INTRODUCTION:Balance impairment contributes to gait dysfunction, falls, and reduced quality of life in adults with Charcot-Marie-Tooth disease (CMT) but has been minimally examined in pediatric CMT. METHODS:The CMT Pediatric Scale (CMTPedS) was administered to 520 children with CMT. Associations between balance functi...

journal_title：Muscle & nerve

authors： Estilow T,Glanzman AM,Burns J,Harrington A,Cornett K,Menezes MP,Shy R,Moroni I,Pagliano E,Pareyson D,Bhandari T,Muntoni F,Laurá M,Reilly MM,Finkel RS,Eichinger KJ,Herrmann DN,Troutman G,Bray P,Halaki M,Shy ME,Yu

更新日期：2019-09-01 00:00:00

abstract：INTRODUCTION:We report preliminary findings of nerve ultrasound in patients with cerebellar ataxia neuropathy vestibular areflexia syndrome (CANVAS) who have sensory impairment due to dorsal root ganglionopathy. METHODS:The ultrasound cross-sectional area (CSA) of median and ulnar nerves of 7 CANVAS patients was compa...

journal_title：Muscle & nerve

authors： Pelosi L,Leadbetter R,Mulroy E,Chancellor AM,Mossman S,Roxburgh R

更新日期：2017-07-01 00:00:00