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 symptoms.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

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

doi

10.1002/mus.21397

subject

Has Abstract

pub_date

2009-10-01 00:00:00

pages

633-9

issue

4

eissn

0148-639X

issn

1097-4598

journal_volume

40

pub_type

杂志文章
  • Obturator neuropathy: causes and outcome.

    abstract::To study causes of obturator neuropathy and to correlate them with outcome, we retrospectively studied patients seen at the Mayo Clinic electromyography (EMG) laboratory from 1975 through 1999 with a diagnosis of obturator neuropathy. Twenty-two patients with obturator neuropathy were identified. The clinical outcome ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.10065

    authors: Sorenson EJ,Chen JJ,Daube JR

    更新日期:2002-04-01 00:00:00

  • Real-time ultrasound imaging of muscles.

    abstract::A prospective study was done on 222 consecutive new patients referred to our pediatric muscle clinic to assess the diagnostic value of ultrasound imaging. Ultrasound scans were interpreted without knowledge of clinical presentation or results of other tests. Muscular dystrophy produced a brightly speckled pattern of i...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880110110

    authors: Heckmatt JZ,Pier N,Dubowitz V

    更新日期:1988-01-01 00:00:00

  • Does impaired glucose metabolism cause polyneuropathy? Review of previous studies and design of a prospective controlled population-based study.

    abstract::In spite of extensive studies it is unclear whether impaired fasting glucose (IFG) or impaired glucose tolerance (IGT), i.e., impaired glucose metabolism (IGM), causes diabetic sensorimotor polyneuropathy (DSPN) or chronic idiopathic axonal polyneuropathy (CIAP); the results and conclusions vary considerably in differ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审

    doi:10.1002/mus.20846

    authors: Dyck PJ,Dyck PJ,Klein CJ,Weigand SD

    更新日期:2007-10-01 00:00:00

  • Transcriptional deficits in oxidative phosphorylation with statin myopathy.

    abstract:INTRODUCTION:Hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase inhibitors, or statins, are widely used drugs for hyperlipidemia and are generally well-tolerated, but the can produce skeletal muscle toxicity. The molecular mechanisms driving statin myopathy are unknown. We investigated the effects of statin treatment...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.22081

    authors: Hubal MJ,Reich KA,De Biase A,Bilbie C,Clarkson PM,Hoffman EP,Thompson PD

    更新日期:2011-09-01 00:00:00

  • Continuous motor unit activity confined to the upper extremities.

    abstract::We report a patient with clinical vermiform motor activity, muscle cramps, delayed relaxation of grip, and continuous motor unit discharges who developed mild symmetric symptoms in the upper extremities following a viral infection. Treatment with carbamazepine produced considerable symptomatic improvement. Needle elec...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880110310

    authors: Tandan R,Fries TJ

    更新日期:1988-03-01 00:00:00

  • Bifacial weakness with paresthesias: Serial nerve conduction studies indicate diffuse demyelinating neuropathy.

    abstract:INTRODUCTION:Bifacial weakness with paresthesias is a rare subtype of Guillain-Barré syndrome (GBS), characterized by facial diplegia in the absence of any other cranial neuropathies, limb weakness, or ataxia. Frequently, patients also complain of distal limb paresthesias before or at the time they develop facial weakn...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.25028

    authors: Morgan C,Fuller G,Wakerley BR

    更新日期:2016-05-01 00:00:00

  • Influence of limb position on assessment of nerve mechanical properties by using shear wave ultrasound elastography.

    abstract:INTRODUCTION:Evaluation of nerve mechanical properties has the potential to improve assessment of nerve impairment. Shear wave velocity, as measured by using shear wave (SW) ultrasound elastography, is a promising indicator of nerve mechanical properties such as stiffness. However, elucidation of external factors that ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.26842

    authors: Rugel CL,Franz CK,Lee SSM

    更新日期:2020-05-01 00:00:00

  • The utility of various sensory nerve conduction responses in assessing brachial plexopathies.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.880180813

    authors: Ferrante MA,Wilbourn AJ

    更新日期:1995-08-01 00:00:00

  • Experimental investigation of muscular neurotization in the rat.

    abstract::Reinnervation of a free muscle graft by nerves from an adjacent intact muscle is called muscular neurotization. This paper investigates the mechanisms and stimuli responsible for muscular neurotization in the rat. Sternohyoid or sternomastoid muscles were transplanted as free muscle grafts to the ventral surface of an...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880100607

    authors: Must R

    更新日期:1987-07-01 00:00:00

  • Absence of developmental and unconventional myosin heavy chain in human suprahyoid muscles.

    abstract:INTRODUCTION:Contradictory reports of the myosin heavy chain (MHC) composition of adult human suprahyoid muscles leave unresolved the extent to which these muscles express developmental and unconventional MHC. METHODS:By immunohistochemistry, separation sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PA...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.23946

    authors: Luo Q,Douglas M,Burkholder T,Sokoloff AJ

    更新日期:2014-04-01 00:00:00

  • Comparison of distal sympathetic with vagal function in diabetic neuropathy.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.880090703

    authors: Low PA,Zimmerman BR,Dyck PJ

    更新日期:1986-09-01 00:00:00

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

    abstract::Mutations in the myelin protein zero gene (MPZ) are associated with certain demyelinating neuropathies, and in particular with Charcot-Marie-Tooth disease type 1B (CMT1B), Dejerine-Sottas syndrome, and congenital hypomyelination. MPZ mutations affecting the protein's transmembrane domain are generally associated with ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.20034

    authors: Eggers SD,Keswani SC,Melli G,Cornblath DR

    更新日期:2004-06-01 00:00:00

  • Abductor hallucis false motor points: electrophysiologic mapping and cadaveric dissection.

    abstract::False motor points (FMPs) can occur in intrinsic foot or hand muscles, causing spuriously prolonged distal motor latencies by misrepresenting the compound muscle action potential (CMAP) onset. We investigated the motor point (MP) and possible FMPs in abductor hallucis (AH) by three methods: (1) electrophysiologic mapp...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(SICI)1097-4598(199609)19:9<1138::AID-MUS9

    authors: Del Toro DR,Park TA

    更新日期:1996-09-01 00:00:00

  • Muscle metabolic alterations assessed by 31-phosphorus magnetic resonance spectroscopy in mild Becker muscular dystrophy.

    abstract::Although the molecular defect causing Becker muscular dystrophy (BMD) has been identified, the biochemical mechanisms that lead to muscle necrosis remain unclear. Exercise-related muscle metabolism in 9 mildly affected BMD patients was assessed by muscle 31-phosphorus magnetic resonance spectroscopy ((31)P MRS) during...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.22181

    authors: Tosetti M,Linsalata S,Battini R,Volpi L,Cini C,Presciutti O,Muntoni F,Cioni G,Siciliano G

    更新日期:2011-11-01 00:00:00

  • Polymyositis--an immunofluorescence study on the distribution of collagen types.

    abstract::Type-specific antibodies to the polymorphic types of collagen have been used to study their distribution in polymyositis. Dramatic increases were observed in the staining with antibodies to Type III collagen and, to a lesser extent, with antibodies to Types I, IV, and V. The changes in capillary and endomysial basemen...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880030605

    authors: Duance VC,Black CM,Dubowitz V,Hughes GR,Bailey AJ

    更新日期:1980-11-01 00:00:00

  • Impaired calcium signaling in muscle fibers from intercostal and foot skeletal muscle in a cigarette smoke-induced mouse model of COPD.

    abstract:INTRODUCTION:Respiratory and locomotor skeletal muscle dysfunction are common findings in chronic obstructive pulmonary disease (COPD); however, the mechanisms that cause muscle impairment in COPD are unclear. Because Ca2+ signaling in excitation-contraction (E-C) coupling is important for muscle activity, we hypothesi...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.25466

    authors: Robison P,Sussan TE,Chen H,Biswal S,Schneider MF,Hernández-Ochoa EO

    更新日期:2017-08-01 00:00:00

  • Limits of normal nerve function during high-frequency stimulation.

    abstract::We studied the effects of prolonged high-frequency stimulation in normal rat tail nerves. Nerves could conduct impulses at 50 Hz for 5 hours without complete conduction block. However, over time there was a significant decrease in amplitude and increase in latency of the compound nerve action potential (CNAP), which g...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880130402

    authors: Robinson LR,Nielsen VK

    更新日期:1990-04-01 00:00:00

  • Acute morphologic changes in orbicularis oculi muscle after doxorubicin injection into the eyelid.

    abstract::This study attempts to gain a better understanding of the primary cause of doxorubicin myotoxicity to aid in the development of a protocol to increase its effectiveness in treating muscle spasm diseases. The time course of acute injury to the orbicularis oculi muscle after injection of doxorubicin into the eyelids of ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880160708

    authors: McLoon LK,Luo XX,Wirtschafter J

    更新日期:1993-07-01 00:00:00

  • Sensory group Ia proximal conduction velocity.

    abstract::The fastest median and ulnar velocities derived by recording motor and mixed nerve action potentials, F waves, H-reflexes, and somatosensory evoked potentials (SEPs) were compared. H-reflex recording was facilitated by employing selective group Ia excitation during voluntary muscular contraction. Mixed nerve, SEP, and...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880070807

    authors: Eisen A,Hoirch M,White J,Calne D

    更新日期:1984-10-01 00:00:00

  • Muscle precursor cells injected into irradiated mdx mouse muscle persist after serial injury.

    abstract::Muscle of donor origin was formed after implantation of H-2Kb-tsA58 muscle precursor cells (mpc) into irradiated mdx nu/nu mouse muscles. A series of injections of the myotoxin, notexin, which destroys mature muscle fibers but spares muscle precursor cells and other tissues, was made into the mpc-injected muscles, lea...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-4598(199902)22:2<174::aid-mus5>

    authors: Gross JG,Morgan JE

    更新日期:1999-02-01 00:00:00

  • Endoneurial sodium accumulation in galactosemic rat nerves.

    abstract::Microdrop samples of endoneurial fluid and serum from galactosemic rats were analyzed with energy dispersive spectrometry (EDS). The sodium concentration of endoneurial fluid from galactose-fed rats (295 meq/liter) was nearly twice that of age-matched controls (152 meq/liter) and indicates that sodium is present in an...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880090509

    authors: Mizisin AP,Myers RR,Powell HC

    更新日期:1986-06-01 00:00:00

  • Action potential shape of rabbit masseter motor units and jaw angle.

    abstract::Action potentials of rabbit masseter motor units (n = 42) were registered at different jaw angles to examine whether the shape of the action potential is related to length of muscle fibers in motor units and depends on the intramuscular location of the motor unit. Twitches were elicited by stimulating motoneurons in t...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.1182

    authors: Turkawski SJ,van Eijden TM

    更新日期:2001-11-01 00:00:00

  • Quantitative laryngeal electromyography parameters may correlate with improved outcomes following botulinum toxin injection for spasmodic dysphonia.

    abstract:BACKGROUND:Despite use of qualitative laryngeal electromyography (LEMG) guided botulinum toxin A (BoNT-A) injection for treatment of adductor spasmodic dysphonia (AdSD), unsatisfactory injections and complete "misses" remain problematic. We aimed to determine if the quantitative LEMG measure of number of small segments...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.27161

    authors: Dwyer CD,Leclerc AA,Nandedkar SD,Young VN,Rosen CA

    更新日期:2020-12-31 00:00:00

  • Randomized controlled trial of a clinical decision support system for painful polyneuropathy.

    abstract:INTRODUCTION:Despite the existence of guidelines, painful neuropathy is often inappropriately treated. We sought to determine the effectiveness of a clinical decision support system on guideline-recommended medication use. METHODS:We randomized neurology providers, stratified by subspecialty, to a best practice alert ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,随机对照试验

    doi:10.1002/mus.26774

    authors: Reynolds EL,Burke JF,Banerjee M,Callaghan BC

    更新日期:2020-05-01 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

  • Velocity recovery function of the compound muscle action potential assessed with doublet and triplet stimulation.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.20801

    authors: Kamavuako EN,Hennings K,Farina D

    更新日期:2007-08-01 00:00:00

  • Amyloid polyneuropathy caused by wild-type transthyretin.

    abstract:INTRODUCTION:Amyloidosis derived from transthyretin (TTR) molecules is typically caused by mutations of the TTR gene. METHODS:We describe an elderly patient with a severe length-dependent polyneuropathy that unexpectedly proved to be caused by wild-type transthyretin amyloidosis. RESULTS:The diagnosis was made by mus...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.24563

    authors: Lam L,Margeta M,Layzer R

    更新日期:2015-07-01 00:00:00

  • Electrical impedance myography in the diagnosis of radiculopathy.

    abstract:INTRODUCTION:We sought to determine whether electrical impedance myography (EIM) could serve as a diagnostic procedure for evaluation of radiculopathy. METHODS:Twenty-seven patients with clinically and radiologically diagnosed cervical or lumbosacral radiculopathy who met a "gold standard" definition underwent EIM and...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.23833

    authors: Spieker AJ,Narayanaswami P,Fleming L,Keel JC,Muzin SC,Rutkove SB

    更新日期:2013-11-01 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

  • Sural nerve water in vivo in normal humans measured by magnetic resonance spectroscopy: relation to age, height, gender, and neurological profile.

    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

    pub_type: 杂志文章

    doi:10.1002/mus.880160311

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

    更新日期:1993-03-01 00:00:00