Abstract:
:Danon disease is a rare X-linked dominant disorder caused by lysosomal-associated membrane protein 2 (LAMP2) deficiency and is characterized by hypertrophic cardiomyopathy, cardiac conduction abnormalities, skeletal vacuolar myopathy, variable degree of mental retardation, and peripheral pigmentary retinopathy. We describe a novel splice mutation in the LAMP2 gene in a French Canadian family. By identifying this novel mutation we were able to offer genetic screening and counseling to all family members. Presymptomatic diagnosis is important as cardiac surveillance can be life-saving.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Nadeau A,Therrien C,Karpati G,Sinnreich Mdoi
10.1002/mus.20930subject
Has Abstractpub_date
2008-03-01 00:00:00pages
338-42issue
3eissn
0148-639Xissn
1097-4598journal_volume
37pub_type
杂志文章相关文献
MUSCLE & NERVE文献大全abstract:INTRODUCTION:Piriformis muscle syndrome (PS) is a disorder encompassing a constellation of symptoms, including buttock and hip pain. In this study we aimed to assess the value of ultrasound (US) in the diagnosis of PS. METHODS:Thirty-three clinically diagnosed PS patients and 26 healthy volunteers underwent a clinical...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.26418
更新日期:2019-04-01 00:00:00
abstract::The utilization of viable biological nerve graft substitutes and nerve allografts raises the problem of nerve storage. To clarify this, rat sciatic nerve segments were harvested and stored in Dulbecco's modified eagle medium. The segments were divided into three groups. In the first group, no cryoprotectant was added,...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/1097-4598(200008)23:8<1227::aid-mus11>3.0.
更新日期:2000-08-01 00:00:00
abstract::We describe two cases of neuralgic amyotrophy with electrophysiological evidence of conduction block across the lower trunk of the brachial plexus. Low-output impedance stimulation of the cervical spinal roots in combination with collision was used to accurately demonstrate the conduction block. Complete electrophysio...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.1041
更新日期:2001-04-01 00:00:00
abstract:INTRODUCTION:Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations. METHODS:We describe clinical, laboratory, electrophys...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.25414
更新日期:2017-05-01 00:00:00
abstract::Cardiotrophin-1 (CT-1) has potent survival-promoting effects on motor neurons in vitro and in vivo and may be effective in treating motor neuron diseases (MND). We investigated the effects of CT-1 treatment in wobbler mouse MND. Wobbler mice were randomly assigned to receive subcutaneously injected CT-1 (1 mg/kg, n = ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.1068
更新日期:2001-06-01 00:00:00
abstract::Chronic inflammatory demyelinating polyneuropathy (CIDP) is usually characterized by prominent motor deficits. A pure sensory presentation, labeled chronic sensory demyelinating neuropathy (CSDN), has been reported, but it is unclear if this neuropathy is a distinct clinical and immunologic entity or merely the sensor...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880180411
更新日期:1995-04-01 00:00:00
abstract:INTRODUCTION:Transitioning from adolescence to adulthood can be problematic for individuals with rare disabilities such as muscular dystrophy (MD). METHODS:We identified a cohort of 220 individuals with MD and 440 matched comparison individuals and measured emergency room (ER) and inpatient (IP) encounters for the yea...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.24599
更新日期:2015-11-01 00:00:00
abstract::Weakness is common in both hyper- and hypothyroidism, and skeletal muscle L-carnitine may play a role in this regard, as suggested by studies indicating abnormal levels of carnitine in serum and urine of patients with thyroid dysfunction. Skeletal muscle samples were obtained for carnitine analysis from control subjec...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20336
更新日期:2005-09-01 00:00:00
abstract::The origins of impaired finger and hand function were examined in 10 stroke survivors with chronic spastic hemiparesis, with the intent of assessing whether mechanical restraint or altered neurophysiological control mechanisms are responsible for the well-known impairment of finger extension. Simultaneous extension of...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.10443
更新日期:2003-09-01 00:00:00
abstract::We studied membrane ultrastructural localization of anionic phospholipids (AP) and sialic acid (SA) calcium binding sites in muscle biopsies from Duchenne muscular dystrophy (DMD) and 3 Becker's muscular dystrophy (BMD) patients using polymyxin B (PXB) and limulus polyphemus (LP) as cytochemical markers. We found that...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880150311
更新日期:1992-03-01 00:00:00
abstract::L-carnitine stimulated CO2 production from 1-14C pyruvate in mitochondria from human skeletal muscle nearly twofold. A comparable increase in the pyruvate dehydrogenase complex (PDHC) activity was seen. Moreover, in the presence of L-carnitine and at pyruvate concentration greater than 0.25 mM, this effect was associa...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880110708
更新日期:1988-07-01 00:00:00
abstract::We compared the diaphragmatic electromyographic (EMG) recordings from 32 patients with known neuromuscular disease and respiratory symptoms (23 neuropathies, 9 myopathies) to recordings from 23 normal subjects. Turns analysis of 219-ms sections, or epochs, of the EMG demonstrated a significant overlap between diagnost...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(sici)1097-4598(199807)21:7<954::aid-mus18
更新日期:1998-07-01 00:00:00
abstract::We studied the effect of a gluten-free diet in patients with idiopathic sensorimotor axonal neuropathy and circulating antigliadin antibodies. Consecutive patients underwent baseline neurophysiological assessment and were offered a gluten-free diet. Those who went on the diet formed the intention-to-treat group and th...
journal_title:Muscle & nerve
pub_type: 临床试验,杂志文章
doi:10.1002/mus.20642
更新日期:2006-12-01 00:00:00
abstract:INTRODUCTION:Detection of denervation in muscles in the craniobulbar area is important to assure widespread lower motor neuron involvement in the diagnosis of amyotrophic lateral sclerosis (ALS). The value of spontaneous activity analysis in needle electromyography (EMG) of the tongue has been questioned in the recent ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.23781
更新日期:2013-08-01 00:00:00
abstract::The purpose of this study was to establish normal values of muscle thickness, ratio of muscle thickness to subcutaneous fat thickness, and muscle echo intensity in children between 11 weeks and 16 years of age. Transverse scans of four muscles were made by standardized real-time ultrasound examination. The scans were ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.10384
更新日期:2003-06-01 00:00:00
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
更新日期:1984-10-01 00:00:00
abstract:INTRODUCTION:Documentation of peripheral nerve demyelination is an important part of the chronic inflammatory demyelinating polyneuropathy (CIDP) diagnostic process. METHODS:We performed a retrospective analysis of patients referred with a diagnosis of CIDP who were found to have a different condition. Electrodiagnost...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.25997
更新日期:2018-04-01 00:00:00
abstract:INTRODUCTION:In this study we determined the reliability and validity of electrical impedance myography (EIM) in facioscapulohumeral muscular dystrophy (FSHD). METHODS:We performed a prospective study of EIM on 16 bilateral limb and trunk muscles in 35 genetically defined and clinically affected FSHD patients (reliabi...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.25065
更新日期:2016-10-01 00:00:00
abstract::Data are scarce relating to the plasticity with strength training of dynamic muscle performance in older humans. Hence, we investigated alterations in the torque-velocity relation with strength training in old age, and their origin. Knee extension and leg-press exercises were performed three times per week for 14 week...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20275
更新日期:2005-03-01 00:00:00
abstract::We investigated the influence of electrical stimulation of the posterior cruciate ligament (PCL) on the motoneuron pool of the thigh muscle during voluntary static and dynamic muscle contraction. The study group comprised nine young men with no history of injury to the knee joints. Multistranded Teflon-insulated stain...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.1172
更新日期:2001-11-01 00:00:00
abstract::Compound muscle action potentials (CMAPs) evoked by magnetic brain stimuli are larger if the subject provides a steady background voluntary contraction of the target muscle. This facilitation could be due either to cortical or spinal mechanisms, or both. Both magnetic and electrical stimuli given immediately after the...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(SICI)1097-4598(199608)19:8<953::AID-MUS3>
更新日期:1996-08-01 00:00:00
abstract::Clinical testing for neuromuscular dysfunction is supported by an extensive amount of excellent basic information about normal and abnormal subcellular physiology and ultrastructure. This information provides an essential frame of reference for describing the rationale of single-fiber electromyography (SFEMG). SFEMG i...
journal_title:Muscle & nerve
pub_type: 杂志文章,评审
doi:10.1002/mus.880120802
更新日期:1989-08-01 00:00:00
abstract::Previous studies suggest that the muscle fiber lysosome system plays a central role in the increased formation of autophagosomes and autolysosomes that occurs in the context of chloroquine-induced myopathy. The goal of this study was to characterize the contribution of receptor-mediated intracellular transport, partic...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.20288
更新日期:2005-04-01 00:00:00
abstract::Measurements were done on the biceps muscles of 6 healthy volunteers to record simultaneously the surface electromyogram (EMG) and vibromyogram (VMG) by means of a piezoelectric device (accelerometer). The VMG is generated by mechanical waves due to the contraction mechanism and often measured as sound. The frequency ...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.880140810
更新日期:1991-08-01 00:00:00
abstract::Chronic and acute administration of epinephrine or related sympathomimetic agents are typically prescribed for the treatment of clinical disorders such as hypotension, anaphylactic and allergic reactions, and bronchial asthma. In addition to its effects on these infirmaties and on carbohydrate metabolism, epinephrine ...
journal_title:Muscle & nerve
pub_type: 杂志文章,评审
doi:10.1002/mus.880121204
更新日期:1989-12-01 00:00:00
abstract::We wished to determine whether evoked force output from a human muscle could be inferred from the amplitude and the frequency of evoked muscular sounds. Sounds from adductor pollicis were recorded with a microphone and compared to evoked force changes produced by varying the intensity of nerve stimulation or of volunt...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/(sici)1097-4598(199708)20:8<991::aid-mus9>
更新日期:1997-08-01 00:00:00
abstract:BACKGROUND:The goals of this study were to determine whether serum concentrations of endocannabinoids (eCB) and related lipids predict disease status in patients with amyotrophic lateral sclerosis (ALS) relative to healthy controls, and whether concentrations correlate with disease duration and severity. METHODS:Serum...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.27096
更新日期:2021-01-01 00:00:00
abstract:INTRODUCTION:Topical application of lidocaine-and-prilocaine (LP) cream attenuates the functionality of small cutaneous nerve fibers. The aim of this human study was to measure the underlying excitability modulation of small cutaneous nerve fibers using a novel and fast perception threshold tracking (PTT) technique. M...
journal_title:Muscle & nerve
pub_type: 杂志文章,随机对照试验
doi:10.1002/mus.26520
更新日期:2019-10-01 00:00:00
abstract:INTRODUCTION:Neuralgic amyotrophy (NA) often imposes diagnostic problems. Recently, MRI and high-resolution ultrasound (HRUS) have proven useful in diagnosing peripheral nerve disorders. METHODS:We performed a chart and imaging review of patients who were examined using neuroimaging and who were referred because of cl...
journal_title:Muscle & nerve
pub_type: 杂志文章
doi:10.1002/mus.25147
更新日期:2016-12-01 00:00:00
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
更新日期:2010-10-01 00:00:00