Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy.


:We used Southern blot analysis and the polymerase chain reaction to analyze the tissue distribution of multiple mitochondrial DNA (mtDNA) deletions in a 45-year-old man with familial mitochondrial myopathy-Southern blots showed two major types of abnormal mtDNA with approximately 4- and 8-kilobase deletions in the skeletal and extraocular muscles. The amount of muscle mtDNA with deletions correlated approximately with the severity of muscle involvement. The polymerase chain reaction showed multiple mtDNA deletions even in clinically asymptomatic tissues, the pattern of which differed with the type of tissue. Nucleotide sequences of several mtDNAs with deletions showed that the deletions were flanked by direct repeats consisting of 3 to 12 nucleotides. Leukocytes from the patient's affected sister and his mother exhibited the same mtDNA deletion pattern. Most of the same deletions were present in leukocytes obtained from the patient's father.


Muscle Nerve


Muscle & nerve


Kawashima S,Ohta S,Kagawa Y,Yoshida M,Nishizawa M




Has Abstract


1994-07-01 00:00:00












  • Functional significance of upper and lower motor neuron impairment in amyotrophic lateral sclerosis.

    abstract::The objective of this study was to examine the contribution of lower motor neuron (LMN) and upper motor neuron (UMN) dysfunction to weakness and impaired motor control in 27 patients with amyotrophic lateral sclerosis (ALS). Isometric strength was measured by dorsiflexor maximum voluntary contraction force (MVC). LMN ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Kent-Braun JA,Walker CH,Weiner MW,Miller RG

    更新日期:1998-06-01 00:00:00

  • Evidence for new isoform of fast myosin heavy chain in rat skeletal muscle.

    abstract::The purpose of this study was to investigate whether the previously demonstrated heterogeneity of myosin heavy chain (MHC) in type 2B fibers of the superficial portion of the lateral gastrocnemius (SLG) muscle of the rat may be due to presence of type 2D/X fibers. Immunohistochemical identification of MHC heterogeneit...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Sawchak JA,Leung B,Shafiq SA

    更新日期:1992-12-01 00:00:00

  • Prognostic factors in carpal tunnel syndrome treated with a corticosteroid injection.

    abstract:INTRODUCTION:Symptoms often return in patients with carpal tunnel syndrome (CTS) who are treated with a local corticosteroid injection. We aimed to determine prognostic factors for a successful long-term outcome. METHODS:We prospectively followed 113 patients who received an injection for CTS. Clinical, electrophysiol...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Meys V,Thissen S,Rozeman S,Beekman R

    更新日期:2011-11-01 00:00:00

  • Electrophysiologic assessment of a median nerve injury in the palm.

    abstract::In median nerve lesions of the hand, electrophysiologic evaluation of the second lumbrical muscle can help to differentiate between lesions of the common digital nerves and the proper digital nerves, as illustrated by this case report. Median nerve conduction studies to the second lumbrical muscle can be performed by ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Busis NA,Logigian EL,Shahani BT

    更新日期:1986-03-01 00:00:00

  • Administration of insulin-like growth factor-I improves fatigue resistance of skeletal muscles from dystrophic mdx mice.

    abstract::Muscle fatigue occurs in many neuromuscular diseases, including the muscular dystrophies, and it contributes to a loss of functional capacity and reduced quality of life for affected patients. An improvement in fatigue resistance has been observed in diaphragm muscles of mdx mice following insulin-like growth factor-I...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Gregorevic P,Plant DR,Lynch GS

    更新日期:2004-09-01 00:00:00

  • Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism.

    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

    pub_type: 杂志文章


    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

  • Acetylcholinesterase histochemistry in the non-endplate region of skeletal muscles and effect of denervation.

    abstract::We measured acetylcholinesterase (AChE) in the non-endplate region of rat muscle, documenting its intrinsic activity within muscle fibers, as well as the extrinsic level in the capillaries and endomysium. When each muscle was considered as a whole, intrinsic AChE activity detected within the fibers was stronger in the...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Nakano S,Akiguchi I,Yasuda Y,Nakamura S,Kameyama M,Kimura J

    更新日期:1990-08-01 00:00:00

  • Comparison of acoustic and electrical signals from erectores spinae muscles.

    abstract::Comparison was made between simultaneous recordings of the electromyogram (EMG) and acoustic myogram (AMG) signals and the torque produced by the lumbar erectores spinae muscles of three healthy subjects while they performed isometric contractions. Repeatability of each signal was studied. The AMG had a relationship t...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Stokes IA,Moffroid MS,Rush S,Haugh LD

    更新日期:1988-04-01 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


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

    更新日期:2010-06-01 00:00:00

  • Comparison of electric and magnetic coil stimulation in the supraclavicular region.

    abstract::We compared the compound motor action potentials (CMAPs) evoked in the biceps, triceps, and abductor digiti minimi (ADM) muscles by conventional electrical stimulation at Erb's point (EP), and by magnetic coil stimulation of the supraclavicular region in 11 normal subjects. We found that magnetic coil stimulation was ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Cros D,Gominak S,Shahani B,Fang J,Day B

    更新日期:1992-05-01 00:00:00

  • Repeatability, consistency, and accuracy of hand-held dynamometry with and without fixation for measuring ankle plantarflexion strength in healthy adolescents and adults.

    abstract:INTRODUCTION:Hand-held dynamometry (HHD) is commonly used to measure ankle plantarflexion strength but has variable reliability measuring higher forces. Fixed HHD is suggested to improve reliability. We, therefore, compared the reliability, consistency, and accuracy of measuring plantarflexion strength. METHODS:Planta...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Davis PR,McKay MJ,Baldwin JN,Burns J,Pareyson D,Rose KJ

    更新日期:2017-11-01 00:00:00

  • Passive transfer of seronegative myasthenia gravis to mice.

    abstract::Muscle weakness in myasthenia gravis is due to autoantibody-induced loss of functional acetylcholine receptors (AChR). About 15% of myasthenia gravis patients, however, do not have detectable anti-AChR antibodies. To investigate the effect of their plasma immunoglobulins on neuromuscular transmission, mice were inject...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Burges J,Vincent A,Molenaar PC,Newsom-Davis J,Peers C,Wray D

    更新日期:1994-12-01 00:00:00

  • Impact of expiratory strength training in amyotrophic lateral sclerosis: Results of a randomized, sham-controlled trial.

    abstract:INTRODUCTION:The purpose of this study was to determine the impact of an in-home expiratory muscle strength training (EMST) program on pulmonary, swallow, and cough function in individuals with amyotrophic lateral sclerosis (ALS). METHODS:EMST was tested in a prospective, single-center, double-blind, randomized, contr...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,随机对照试验


    authors: Plowman EK,Tabor-Gray L,Rosado KM,Vasilopoulos T,Robison R,Chapin JL,Gaziano J,Vu T,Gooch C

    更新日期:2019-01-01 00:00:00

  • Properties of the tibialis anterior muscle after treatment with laser therapy and natural latex protein following sciatic nerve crush.

    abstract:INTRODUCTION:In this study we evaluated the characteristics of the tibialis anterior muscle after sciatic nerve crush and treatment with low-level laser therapy (LLLT) or the protein from natural latex (P1). METHODS:We studied the following 6 groups of male Wistar rats: control (CG); exposed nerve (EG); injured nerve ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Muniz KL,Dias FJ,Coutinho-Netto J,Calzzani RA,Iyomasa MM,Sousa LG,Santos TT,Teles Vde O,Watanabe IS,Fazan VP,Issa JP

    更新日期:2015-11-01 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


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

    更新日期:2017-08-01 00:00:00

  • Multifocal motor neuropathy with conduction block misdiagnosed as multiple entrapment neuropathies.

    abstract::We describe a 58-year-old male with a few years history of multifocal weakness in the upper limbs with minimal to absent sensory complaints. He was diagnosed as having multiple compressive neuropathies, which required repeated decompressive surgeries. Electrodiagnostic studies prior to diagnosis were limited to a few ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Beydoun SR

    更新日期:1998-06-01 00:00:00

  • Congenital cervical spinal atrophy.

    abstract::Three children presented at birth with axial hypotonia and symmetrical flaccid paresis limited to the upper extremities, and involving proximal and distal muscle groups. At birth, palmar flexion creases were poorly developed, and the hand muscles were atrophic. These clinical features, the muscle biopsy findings, and ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Darwish H,Sarnat H,Archer C,Brownell K,Kotagal S

    更新日期:1981-03-01 00:00:00

  • Adenosine inhibits depolarization-induced Ca(2+) release in mammalian skeletal muscle.

    abstract::In normal skeletal muscle, prolonged stimulation results in some cellular adenosine triphosphate (ATP) being converted to adenosine monophosphate (AMP) and then deaminated to inosine monophosphate (IMP). Here, we investigate whether the build-up of IMP contributes to muscle fatigue and also determine what happens if A...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Blazev R,Lamb GD

    更新日期:1999-12-01 00:00:00

  • Ultrasonography of sciatic nerve endometriosis.

    abstract:INTRODUCTION:We describe the ultrasonographic findings of sciatic nerve endometriosis. METHODS:Two premenopausal women with catamenial sciatica symptoms were examined, the first without a history of endometriosis, the second with previously confirmed endometriosis of the ovary. Ultrasonography, extending from the scia...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Arányi Z,Polyák I,Tóth N,Vermes G,Göcsei Z

    更新日期:2016-09-01 00:00:00

  • Medial femoral cutaneous nerve conduction study with distal recording: A novel technique.

    abstract:BACKGROUND:A new technique to obtain the sensory nerve action potential (SNAP) of the medial femoral cutaneous nerve is described. METHODS:SNAPs were recorded from 104 subjects with a bar recording electrode 10 cm proximal to the patella along an imaginary line drawn between the medial edge of the patella and the femo...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Geney-Castro DE,Vanegas-Muñóz J,Plata-Contreras J,Salinas-Duran F

    更新日期:2020-03-01 00:00:00

  • Effect of thermode application pressure on thermal threshold detection.

    abstract::Studies using quantitative sensory testing (QST) often present incongruent results due to intra- and intersubject as well as interobserver variability which limit widespread use of the technique. Eliminating or reducing the factors responsible for this variability is of great interest, as it increases reliability and ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Pavlaković G,Klinke I,Pavlaković H,Züchner K,Zapf A,Bachmann CG,Graf BM,Crozier TA

    更新日期:2008-11-01 00:00:00

  • CMAP variability as a function of electrode site and size.

    abstract::The site of the recording electrode influences the amplitude of the compound muscle action potential (CMAP) and its variation over a length of nerve. The effects of large electrodes on this source of intraindividual variability were assessed. Right median nerves of 20 healthy subjects were studied, and recordings made...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: van Dijk JG,Tjon-a-Tsien A,van der Kamp W

    更新日期:1995-01-01 00:00:00

  • The prevalence of lumbar paraspinal spontaneous activity in asymptomatic subjects.

    abstract::Electrodiagnostic findings of fibrillations and positive sharp waves in the lumbosacral paraspinals in patients without previous back surgery has been generally considered to be abnormal, consistent with posterior rami denervation. In some cases, it is the only abnormality on the electromyographic examination. This st...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Date ES,Mar EY,Bugola MR,Teraoka JK

    更新日期:1996-03-01 00:00:00

  • Interspike interval analysis in a patient with peripheral nerve hyperexcitability and potassium channel antibodies.

    abstract::Neuromyotonia or Isaacs' syndrome is a rare peripheral nerve hyperexcitability disorder caused by antibodies against potassium channels of myelinated axons. We present the high-density surface electromyographic (EMG) recordings of a patient with fasciculations and cramps due to neuromyotonia. To characterize the time ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Kleine BU,Stegeman DF,Drost G,Zwarts MJ

    更新日期:2008-02-01 00:00:00

  • SEPs and CNS magnetic stimulation in syringomyelia.

    abstract::Somatosensory evoked potentials (SEPs) and motor evoked potentials (MEPs) to transcranial and spinal stimulation from upper and lower limb muscles were elicited in 13 patients with syringomyelia. Seven had an associated Chiari type I anomaly. Diagnosis was confirmed by MRI. In 5 cases, SEPs and MEPs were performed bef...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Nogués MA,Pardal AM,Merello M,Miguel MA

    更新日期:1992-09-01 00:00:00

  • Causes of neuropathy in patients referred as "idiopathic neuropathy".

    abstract:INTRODUCTION:The etiology of neuropathy was idiopathic in 20%-30% of patients despite thorough investigation, based on results from the 1980s and 1990s. Since then, new etiologies have been recognized, and skin biopsy has been used to confirm small-fiber neuropathy. METHODS:The authors reviewed the charts of 373 patie...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Farhad K,Traub R,Ruzhansky KM,Brannagan TH 3rd

    更新日期:2016-06-01 00:00:00

  • The effect of isometric short-term electrical stimulation on denervated muscle.

    abstract::Electrical stimulation was applied daily for 20 minutes to denervated rabbit extensor digitorum longus muscle. One group was stimulated with short tetani, another with 1-Hz frequency, using isometric contractions for both. Tetanic stimulation induced severe fibrosis and is harmful to denervated muscle. One Hertz stimu...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Nix WA,Dahm M

    更新日期:1987-02-01 00:00:00

  • Endurance training improves skeletal muscle electrical activity in active COPD patients.

    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

    pub_type: 临床试验,杂志文章


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

    更新日期:2003-12-01 00:00:00

  • Creatine kinase activity in normal and Duchenne muscular dystrophy fibroblasts.

    abstract::Cultured human skin fibroblasts from 9 patients with Duchenne muscular dystrophy (DMD) and 8 normal age- and sex-matched controls were examined for creatine kinase (CK) activity. Both the normal and the DMD fibroblasts were found to have significant levels of CK activity (approximately 10 x 10(-3) IU per milligram of ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Davis MH,Cappel R,Vester JW,Samaha FJ,Gruenstein E

    更新日期:1982-01-01 00:00:00

  • Randomized, double-blind trial of mazindol in Duchenne dystrophy.

    abstract::There is evidence that growth hormone may be related to the progression of weakness in Duchenne dystrophy. We conducted a 12-month controlled trial of mazindol, a putative growth hormone secretion inhibitor, in 83 boys with Duchenne dystrophy. Muscle strength, contractures, functional ability and pulmonary function we...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章,随机对照试验


    authors: Griggs RC,Moxley RT 3rd,Mendell JR,Fenichel GM,Brooke MH,Miller PJ,Mandel S,Florence J,Schierbecker J,Kaiser KK

    更新日期:1990-12-01 00:00:00