Literature DB >> 2230847

"Quadriceps myopathy": a clinical variant form of Becker muscular dystrophy.

Y Wada1, Y Itoh, T Furukawa, H Tsukagoshi, K Arahata.   

Abstract

A 26-year-old male with "quadriceps myopathy" is presented. He had a family history and only the bilateral quadriceps were wasted, without symptomatic weakness. The specimen of the muscle biopsy showed typical myopathic features without inflammatory reactions. The patchy defect of muscular dystrophin was proved by immunohistochemical study. Dystrophin analysis revealed abnormal 380 kDa dystrophin. Gene deletion was proved at exon 45-48 of Xp21 without frameshift. This case was considered to be a clinical variant form of Becker muscular dystrophy.

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Year:  1990        PMID： 2230847     DOI： 10.1007/bf00314749

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  15 in total

1.  [Isolated involvement of the musculus quadriceps femoris in progressive muscular dystrophy; description of two cases & contribution to the differential diagnosis of femoral atrophy].

Authors:  M MUMENTHALER; T BOSCH; E KATZENSTEIN; F LEHNER
Journal:  Confin Neurol       Date:  1958

2.  Quadriceps myopathy occurring in middle age.

Authors:  J W TURNER; K W HEATHFIELD
Journal:  J Neurol Neurosurg Psychiatry       Date:  1961-02       Impact factor: 10.154

3.  Computed tomography of the skeletal musculature in Becker-type muscular dystrophy and benign infantile spinal muscular atrophy.

Authors:  M de Visser; B Verbeeten
Journal:  Muscle Nerve       Date:  1985-06       Impact factor: 3.217

4.  Quadriceps myopathy--entity or syndrome?

Authors:  H G Boddie; E G Stewart-Wynne
Journal:  Arch Neurol       Date:  1974-07

5.  Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.

Authors:  E Bonilla; C E Samitt; A F Miranda; A P Hays; G Salviati; S DiMauro; L M Kunkel; E P Hoffman; L P Rowland
Journal:  Cell       Date:  1988-08-12       Impact factor: 41.582

6.  Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors:  M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal:  Cell       Date:  1987-07-31       Impact factor: 41.582

7.  Quadriceps myopathy: a variant of the limb-girdle dystrophy syndrome.

Authors:  M Swash; K W Heathfield
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-04       Impact factor: 10.154

8.  Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide.

Authors:  K Arahata; S Ishiura; T Ishiguro; T Tsukahara; Y Suhara; C Eguchi; T Ishihara; I Nonaka; E Ozawa; H Sugita
Journal:  Nature       Date:  1988-06-30       Impact factor: 49.962

9.  Quadriceps myositis: an appraisal of the diagnostic criteria of quadriceps myopathy.

Authors:  P D Mohr; T G Knowlson
Journal:  Postgrad Med J       Date:  1977-12       Impact factor: 2.401

10.  An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

Authors:  A P Monaco; C J Bertelson; S Liechti-Gallati; H Moser; L M Kunkel
Journal:  Genomics       Date:  1988-01       Impact factor: 5.736
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  4 in total

1.  Quadriceps myopathy caused by skeletal muscle-specific ablation of β(cyto)-actin.

Authors:  Kurt W Prins; Jarrod A Call; Dawn A Lowe; James M Ervasti
Journal:  J Cell Sci       Date:  2011-02-15       Impact factor: 5.285

2.  Pseudometabolic presentation of dystrophinopathy due to a missense mutation.

Authors:  Aravindhan Veerapandiyan; Vandana Shashi; Yong-Hui Jiang; William Brian Gallentine; Kelly Schoch; Edward Clinton Smith
Journal:  Muscle Nerve       Date:  2010-12       Impact factor: 3.217

3.  A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.

Authors:  Xihua Li; Lei Zhao; Shuizhen Zhou; Chaoping Hu; Yiyun Shi; Wei Shi; Hui Li; Fang Liu; Bingbing Wu; Yi Wang
Journal:  Orphanet J Rare Dis       Date:  2015-01-23       Impact factor: 4.123

4.  Muscle MRI and functional outcome measures in Becker muscular dystrophy.

Authors:  Andrea Barp; Luca Bello; Luca Caumo; Paola Campadello; Claudio Semplicini; Annalisa Lazzarotto; Gianni Sorarù; Chiara Calore; Alessandro Rampado; Raffaella Motta; Roberto Stramare; Elena Pegoraro
Journal:  Sci Rep       Date:  2017-11-22       Impact factor: 4.379
  4 in total

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