听力与言语-语言病理学

行为科学

医学伦理学

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  • Safety of influenza and H1N1 vaccinations in patients with myasthenia gravis, and patient compliance.

    abstract::Myasthenia gravis (MG) exacerbations may be triggered by infections.In the winter of 2009/2010, the Israeli Ministry of Health recommended that each individual with a chronic condition be vaccinated against both the seasonal influenza and the H1N1 virus. We examined vaccination practices in 74 MG patients. Only 38 pat...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.22077

    authors: Auriel E,Regev K,Dori A,Karni A

    更新日期:2011-06-01 00:00:00

  • Demyelinating neuropathy with anti-CRMP5 antibodies predating diagnosis of breast carcinoma: favorable outcome after cancer therapy.

    abstract:INTRODUCTION:Breast cancer is exceptionally associated with anti-collapsin response mediator protein 5 (anti-CRMP5) antibody or demyelinating neuropathy. This paraneoplastic antibody is itself not associated with demyelinating neuropathy. METHODS:Herein we describe a patient with a predominantly sensory ataxic demyeli...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.22036

    authors: Samarasekera S,Rajabally YA

    更新日期:2011-05-01 00:00:00

  • Protection of human muscle acetylcholinesterase from soman by pyridostigmine bromide.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.21922

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

    更新日期:2011-04-01 00:00:00

  • Do A-waves help predict intravenous immunoglobulin response in multifocal motor neuropathy without block?

    abstract:INTRODUCTION:Are there electrophysiological findings that predict response to intravenous immunoglobulin (IVIg) in patients with lower motor neuron (LMN) syndromes without multifocal conduction block (MCB)? METHODS:We enrolled 9 patients with LMN syndromes without MCB to receive 18 weeks of IVIg therapy. Response was ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21914

    authors: Lange DJ,Nijjar R,Voustianiouk A,Seidel G,Panchal J,Wang AK

    更新日期:2011-04-01 00:00:00

  • Turns-amplitude analysis in normal and myopathic facial muscles.

    abstract::The purpose of this study was to assess turns/amplitude analysis (TAA) as an objective alternative to conventional qualitative electromyography (EMG) for detection of myopathy in facial muscles. Normal values of TAA parameters were calculated in the frontalis and mentalis muscles of 26 control subjects. We estimated t...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21876

    authors: Karandreas N,Kararizou E,Papagianni A,Zambelis T,Kokotis P

    更新日期:2011-03-01 00:00:00

  • Validity and reliability of the Purdue Pegboard Test in carpal tunnel syndrome.

    abstract::There is a paucity of validated tests to quantify hand function impairment due to carpal tunnel syndrome (CTS). The aim of this study was to test the validity and reliability of the Purdue Pegboard Test (PPT) in CTS patients. We compared 190 CTS patients with 122 healthy, age-matched controls. CTS severity was determi...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21856

    authors: Amirjani N,Ashworth NL,Olson JL,Morhart M,Chan KM

    更新日期:2011-02-01 00:00:00

  • Effects of resistance training on force steadiness and common drive.

    abstract::The purpose of this study was to investigate the influence of an 8-week resistance training program on force steadiness and common drive for the vastus lateralis muscle. Eight untrained men performed a resistance training program. Before the program and at the end of each week, the subjects performed a trapezoid isome...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21836

    authors: Beck TW,Defreitas JM,Stock MS,Dillon MA

    更新日期:2011-02-01 00:00:00

  • Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice.

    abstract::Absence of α-actinin-3, encoded by the ACTN3 "speed gene," is associated with poorer sprinting performance in athletes and a slowing of relaxation in fast-twitch muscles of Actn3 knockout (KO) mice. Our first aim was to investigate, at the individual-fiber level, possible mechanisms for this slowed relaxation. Our sec...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21778

    authors: Chan S,Seto JT,Houweling PJ,Yang N,North KN,Head SI

    更新日期:2011-01-01 00:00:00

  • Doxorubicin causes diaphragm weakness in murine models of cancer chemotherapy.

    abstract::Doxorubicin is a chemotherapeutic agent prescribed for a variety of tumors. While undergoing treatment, patients exhibit frequent symptoms that suggest respiratory muscle weakness. Cancer patients can receive doxorubicin chemotherapy through either intravenous (IV) or intraperitoneal (IP) injections. We hypothesized t...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21809

    authors: Gilliam LA,Moylan JS,Callahan LA,Sumandea MP,Reid MB

    更新日期:2011-01-01 00:00:00

  • Altered MEF2 isoforms in myotonic dystrophy and other neuromuscular disorders.

    abstract::Because of their central role in muscle development and maintenance, MEF2 family members represent excellent candidate effectors of the muscle pathology in myotonic dystrophy (DM). We investigated the expression and alternative splicing of all four MEF2 genes in muscle from neuromuscular disorder (NMD) patients, inclu...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21789

    authors: Bachinski LL,Sirito M,Böhme M,Baggerly KA,Udd B,Krahe R

    更新日期:2010-12-01 00:00:00

  • Pseudometabolic presentation of dystrophinopathy due to a missense mutation.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.21823

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

    更新日期:2010-12-01 00:00:00

  • Fiber-type dependence of stretch-induced force enhancement in rat skeletal muscle.

    abstract::When an active muscle is stretched, the force increases due to strain of contractile and noncontractile proteins. We examined this force enhancement in rat extensor digitorum longus (EDL) and soleus muscles, which differ in their composition of these proteins, and their susceptibility to damage. Small stretches were a...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21744

    authors: Ramsey KA,Bakker AJ,Pinniger GJ

    更新日期:2010-11-01 00:00:00

  • Poisson distribution to analyze near-threshold motor evoked potentials.

    abstract::Motor unit action potentials (MUAPs) evoked by repetitive, low-intensity transcranial magnetic stimulation can be modeled as a Poisson process. A mathematical consequence of such a model is that the ratio of the variance to the mean of the amplitudes of motor evoked potentials (MEPs) should provide an estimate of the ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21818

    authors: Kaelin-Lang A,Conforto AB,Z'Graggen W,Hess CW

    更新日期:2010-11-01 00:00:00

  • A randomized trial of coenzyme Q10 in mitochondrial disorders.

    abstract::Case reports and open-label studies suggest that coenzyme Q(10) (CoQ(10)) treatment may have beneficial effects in mitochondrial disease patients; however, controlled trials are warranted to clinically prove its effectiveness. Thirty patients with mitochondrial cytopathy received 1200 mg/day CoQ(10) for 60 days in a r...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,随机对照试验

    doi:10.1002/mus.21758

    authors: Glover EI,Martin J,Maher A,Thornhill RE,Moran GR,Tarnopolsky MA

    更新日期:2010-11-01 00:00:00

  • Coexistence of two chronic neuropathies in a young child: Charcot-Marie-Tooth disease type 1A and chronic inflammatory demyelinating polyneuropathy.

    abstract::We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpe...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21753

    authors: Marques W Jr,Funayama CA,Secchin JB,Lourenço CM,Gouvêa SP,Marques VD,Bastos PG,Barreira AA

    更新日期:2010-10-01 00:00:00

  • Effect of maximal voluntary contraction on the amplitude of the compound muscle action potential: implications for the interpolated twitch technique.

    abstract::The compound muscle action potential (M(MAX)) during a maximal voluntary contraction (MVC) may be measured to determine if the motor nerve has been supramaximally stimulated during the interpolated twitch technique (ITT). Ten males performed isometric knee extension MVCs. M(MAX) for the vastus medialis was recorded du...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21692

    authors: Berger MJ,Watson BV,Doherty TJ

    更新日期:2010-10-01 00:00:00

  • Clinical and electrophysiological features of the 2007 Guillain-Barré syndrome epidemic in northeast China.

    abstract::Guillain-Barré syndrome (GBS) generally presents sporadically. Epidemics of GBS are unusual. We reviewed the medical records of 26 patients hospitalized for GBS during the 2007 GBS epidemic in northeast China. The objective was to determine whether there were clinical and electrophysiological characteristics. All pati...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21701

    authors: Ye Y,Zhu D,Wang K,Wu J,Feng J,Ma D,Xing Y,Jiang X

    更新日期:2010-09-01 00:00:00

  • Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.21734

    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

  • Real-time visualization of muscle stiffness distribution with ultrasound shear wave imaging during muscle contraction.

    abstract::A stand-alone ultrasound shear wave imaging technology has been developed to quantify and visualize Young's modulus distribution by remotely applying ultrasound radiation force and tracking the resulting microvibrations in soft tissues with ultrafast ultrasound imaging. We report the first preliminary data that detect...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21723

    authors: Shinohara M,Sabra K,Gennisson JL,Fink M,Tanter M

    更新日期:2010-09-01 00:00:00

  • Characterization of skeletal muscle effects associated with daptomycin in rats.

    abstract::Daptomycin is a lipopeptide antibiotic with strong bactericidal effects against Gram-positive bacteria and minor side effects on skeletal muscles. The type and magnitude of the early effect of daptomycin on skeletal muscles of rats was quantified by histopathology, examination of contractile properties, Evans Blue Dye...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21691

    authors: Kostrominova TY,Hassett CA,Rader EP,Davis C,Larkin LM,Coleman S,Oleson FB,Faulkner JA

    更新日期:2010-09-01 00:00:00

  • Safety of nerve conduction studies in patients with peripheral intravenous lines.

    abstract::Nerve conduction studies (NCS) may be deferred because of a perceived risk of cardiac arrhythmia in the presence of same-limb peripheral intravenous lines. Patients with implanted pacemakers or defibrillators provide a model in whom this risk can be assessed. Twenty patients, seven with pacemakers and 13 with defibril...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21714

    authors: Mellion ML,Buxton AE,Iyer V,Almahameed S,Lorvidhaya P,Gilchrist JM

    更新日期:2010-08-01 00:00:00

  • Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.

    abstract::Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (MPZ) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2 (less frequent and with unaffected conduction velocities), and CMTID (wi...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21643

    authors: Banchs I,Casasnovas C,Montero J,Volpini V,Martínez-Matos JA

    更新日期:2010-08-01 00:00:00

  • A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.

    abstract::To define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), we developed a protocol that quantifies muscle weakness by combining the functional evaluation of six muscle groups affected in this disease. To validate reproducibility of the protocol, 69 patients were recruited. Each patie...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21671

    authors: Lamperti C,Fabbri G,Vercelli L,D'Amico R,Frusciante R,Bonifazi E,Fiorillo C,Borsato C,Cao M,Servida M,Greco F,Di Leo R,Volpi L,Manzoli C,Cudia P,Pastorello E,Ricciardi L,Siciliano G,Galluzzi G,Rodolico C,Santoro L

    更新日期:2010-08-01 00:00:00

  • Transgenic overexpression of laminin alpha1 chain in laminin alpha2 chain-deficient mice rescues the disease throughout the lifespan.

    abstract::Several approaches to treat laminin alpha2 chain-deficient congenital muscular dystrophy (MDC1A) in mouse models have been undertaken. Most have shown promising results in young animals. However, older animals have only been characterized to some extent. Herein we analyze the lifespan of laminin alpha2 chain-deficient...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21616

    authors: Gawlik KI,Durbeej M

    更新日期:2010-07-01 00:00:00

  • Effects of prolonged repetitive stimulation of median, ulnar and peroneal nerves.

    abstract::It is important to know the effects of prolonged repetitive nerve stimulation (RNS) when it is used in neurophysiological studies. RNS with up to 100 supramaximal stimuli was given to the median, ulnar, and peroneal nerves of normal subjects and the ulnar nerves of subjects with early amyotrophic lateral sclerosis (AL...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21604

    authors: Baumann F,Henderson RD,Tremayne F,Hutchinson N,McCombe PA

    更新日期:2010-06-01 00:00:00

  • I-Z-I complexes in congenital myopathy.

    abstract::A 3-month-old boy with hypotonia at birth succumbed to a congenital myopathy. The major finding in his muscle biopsy corresponded to I-Z-I complexes described previously in embryonic skeletal muscle. A few previous myopathy cases have described findings suggestive of I-Z-I-like complexes. A mutation affecting mononucl...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21575

    authors: Rhodes RH,Sharer LR

    更新日期:2010-05-01 00:00:00

  • Electrical stimulation impairs early functional recovery and accentuates skeletal muscle atrophy after sciatic nerve crush injury in rats.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.21549

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

    更新日期:2010-05-01 00:00:00

  • L1 radiculopathy mimicking meralgia paresthetica: a case report.

    abstract::L1 radiculopathy is very rare and difficult to diagnose with needle electromyography. A patient presented with pain and hypesthesia on the anterolateral aspect of the left thigh. Nerve conduction studies and needle electromyography were normal, except for the quadratus lumborum and iliopsoas muscles, which showed abno...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21601

    authors: Yang SN,Kim DH

    更新日期:2010-04-01 00:00:00

  • Coexistent autoimmune autonomic ganglionopathy and myasthenia gravis associated with non-small-cell lung cancer.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.21528

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

    更新日期:2010-03-01 00:00:00

  • Diffuse large B-cell lymphoma presenting as piriformis syndrome.

    abstract::Piriformis syndrome (PS) is a rare condition characterized by pain and paresthesia of the buttock, often radiating to the posterior thigh. A patient with sciatica that was clinically suspicious for PS, underwent diagnostic work-up. A diagnosis of diffuse large B-cell lymphoma with neurolymphomatosis (NL) was made. To ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21538

    authors: Ye BS,Sunwoo IN,Suh BC,Park JP,Shim DS,Kim SM

    更新日期:2010-03-01 00:00:00

  • Effects of exercise and muscle type on BDNF, NT-4/5, and TrKB expression in skeletal muscle.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.21503

    authors: Ogborn DI,Gardiner PF

    更新日期:2010-03-01 00:00:00

  • Somatosensory evoked potential monitoring of the brachial plexus during a Woodward procedure for correction of Sprengel's deformity.

    abstract::Sprengel's deformity is the most common congenital deformity of the shoulder. A known complication of correcting this deformity is brachial plexus palsy. In this study we used somatosensory evoked potential (SSEP) monitoring during correction of a Sprengel's deformity and identified an early iatrogenic brachial plexus...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21545

    authors: Shea KG,Apel PJ,Showalter LD,Bell WL

    更新日期:2010-02-01 00:00:00

  • Skeletal muscle cell MHC I expression: implications for statin-induced myopathy.

    abstract::Statins can induce necrotizing or inflammatory myopathies in some patients. Increased major histocompatibility complex class I (MHC I) expression has been shown in muscle biopsies of statin-induced myopathy. Therefore, we investigated the effect of statins on the expression of MHC I in muscle cells. Using flow cytomet...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21479

    authors: Singh P,Kohr D,Kaps M,Blaes F

    更新日期:2010-02-01 00:00:00

  • Probabilistic muscle characterization using QEMG: application to neuropathic muscle.

    abstract::Clinicians who use electromyographic (EMG) signals to help determine the presence or absence of abnormality in a muscle often, with varying degrees of success, evaluate sets of motor unit potentials (MUPs) qualitatively and/or quantitatively to characterize the muscle in a clinically meaningful way. The resulting musc...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21456

    authors: Pino LJ,Stashuk DW,Boe SG,Doherty TJ

    更新日期:2010-01-01 00:00:00

  • Involvement of PI3K/Akt/TOR pathway in stretch-induced hypertrophy of myotubes.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.21473

    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

  • Peripheral nerve size in normals and patients with polyneuropathy: an ultrasound study.

    abstract::Ultrasound has been used for visualizing peripheral nerve pathology. Our goal was to use ultrasound to quantitate the sizes of upper extremity nerves along their length in control subjects and patients with neuropathy. We measured median and ulnar nerve cross-sectional areas (NCSA) in the arms of 190 subjects, includi...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21431

    authors: Zaidman CM,Al-Lozi M,Pestronk A

    更新日期:2009-12-01 00:00:00

  • Safety of influenza vaccination in patients with myasthenia gravis: a population-based study.

    abstract::Influenza vaccination has been associated with adverse events including Guillain-Barré syndrome. Because the safety of influenza vaccination in patients with myasthenia gravis (MG) has not been established, some clinicians discourage vaccination for these patients. We explored whether the administration of influenza v...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21440

    authors: Zinman L,Thoma J,Kwong JC,Kopp A,Stukel TA,Juurlink DN

    更新日期:2009-12-01 00:00:00

  • Expression of genes related to myostatin signaling during rat skeletal muscle longitudinal growth.

    abstract::In this study we investigated the gene expression of proteins related to myostatin (MSTN) signaling during skeletal muscle longitudinal growth. To promote muscle growth, Wistar male rats were submitted to a stretching protocol for different durations (12, 24, 48, and 96 hours). Following this protocol, soleus weight a...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21426

    authors: Aoki MS,Soares AG,Miyabara EH,Baptista IL,Moriscot AS

    更新日期:2009-12-01 00:00:00

  • In vivo bioluminescent imaging of Schwann cells in a poly(DL-lactide-epsilon-caprolactone) nerve guide.

    abstract::Nerve guides seeded with Schwann cells (SCs) promote axonal regeneration in peripheral nerve lesions. We examined the applicability of bioluminescent imaging (BLI) for monitoring the fate of SCs in nerve guides after implantation. Rat SCs were transfected with the firefly luciferase (Fluc) gene and subsequently seeded...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21372

    authors: Ma MS,Van Dam G,Meek M,Boddeke E,Copray S

    更新日期:2009-11-01 00:00:00

  • A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

    abstract::In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21397

    authors: Carpenter D,Ismail A,Robinson RL,Ringrose C,Booms P,Iles DE,Halsall PJ,Steele D,Shaw MA,Hopkins PM

    更新日期:2009-10-01 00:00:00

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