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  • 1
    Electronic Resource
    Electronic Resource
    Immunoblot analysis of dystrophin-related protein (DRP)
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease 1180 (1993), S. 257-261 
    Details
    ISSN: 0925-4439
    Keywords: Dystrophin ; Dystrophin-Related Protein ; Immunoassay
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0925-4439(93)90047-5
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A symptomatic female patient with Duchenne muscular dystrophy diagnosed by dystrophin-staining: A case report (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 66-68 
    Details
    ISSN: 1432-1076
    Keywords: DMD ; Cardiomyopathy ; Dystrophin diagnosis ; Carrier
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a case of symptomatic carrier of Duchenne muscular dystrophy (DMD) in a 14-year-old girl with no prior family history of DMD. She presented with chest pain, enlarged calf muscles, an elevated serum creatine kinase (CK), and decreased left ventricular function. Histological examination of skeletal muscle revealed myopathic changes and immunostaining with anti-dystrophin antiserum demonstrated a mosaic pattern which are compatible with the observations in carriers of DMD. Southern blots using the dystrophin cDNA revealed no evidence of a deletion within the DMD gene in the patient or in her mother. We found this observation interesting for two reasons: 1. Cardiomyopathy is rare in female DMD patients. 2. Immunostaining of a muscle biopsy with anti-dystorphin serum proved to be valuable in the diagnosed for symptomatic carriers of the dystrophin gene mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02073897
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    “Quadriceps myopathy”: a clinical variant form of becker muscular dystrophy (1990)
    Springer
    Journal of neurology 237 (1990), S. 310-312 
    Details
    ISSN: 1432-1459
    Keywords: Quadriceps myopathy ; Becker muscular dystrophy ; Dystrophin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00314749
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms (1990)
    Springer
    Journal of neurology 237 (1990), S. 483-485 
    Details
    ISSN: 1432-1459
    Keywords: Duchenne muscular dystrophy ; Manifesting carrier ; Cardiomyopathy ; Dystrophin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 42-year-old so-called manifesting carrier of Duchenne muscular dystrophy (DMD), whose first complaints were severe myocardial symptoms, is described. Immunohistochemical study using anti-dystrophin antiserum and analysis of cloned segments of X chromosome DNA were performed. Her two sons and one of her brothers appear to have had the same disease. She was admitted to hospital complaining of dyspnoea, back pain and palpitations and was first diagnosed as having myocardial infarction. However, this diagnosis was excluded. The echocardiogram showed diffuse abnormalities of myocardial function. Serum enzymes were increased. Minimal weakness and decreased deep tendon reflexes were detected in her left lower extremity. Muscle biopsy revealed a small number of necrotic fibres. Immunohistochemical study using anti-dystrophin antiserum showed a mosaic pattern of the surface membrane. Analysis of cloned segments of X chromosome DNA from the patient and her son showed the XmnI(Asp) alleles of pERT 87-15 and the TaqI alleles of pERT 87-8 in both patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00314767
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    Paper (German National Licenses)
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