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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 237 (1990), S. 310-312 
    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
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 237 (1990), S. 290-294 
    ISSN: 1432-1459
    Keywords: Palatal myoclonus ; EEG activity ; REM sleep
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Polysomnography, including electroencephalography, electromyography and electro-oculography was performed in three patients with palatal myoclonus (PM). The amplitude of the myoclonus decreased during sleep. The frequency did not change during non-REM sleep, but increased during REM sleep in two patients. Ocular myoclonus synchronized with PM disappeared during deep sleep stages in two patients and reappeared during REM sleep in one of them. In the other patient, ocular myoclonus was noted only in REM sleep, being absent even when the patient was awake. All patients showed episodic EEG activities synchronous with myoclonic jerks only in REM sleep. These episodes were noted 5–15 times throughout the night, and each episode lasting for 1–7 s. They were negative or positive waves of saw-tooth appearance which were distributed predominantly in the central region. During the episodes, the frequency of myoclonic jerks increased in two patients. Although it is known that REM sleep influences PM and ocular myoclonus, this is the first report demonstrating the electroencephalographic activity associated with PM.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 236 (1989), S. 115-116 
    ISSN: 1432-1459
    Keywords: Palatal myoclonus ; Inferior olive ; Magnetic resonance imaging ; Pseudohypertrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Four patients with palatal myoclonus (PM) were studied with magnetic resonance imaging (MRI). Increased signal intensity and bilateral enlargement of the inferior olives were recognized in two patients with bilateral PM, pontine haemorrhage and neuro-Behçet disease, and a similar olivary change on the contralateral side was noted in a case of pontine infarction with unilateral PM. These findings were consistent with the pathology. The changes were more obvious in proton density-weighted images than in T2-weighted images, which thus differ from the changes in common gliosis. The other patient with the syndrome of PM and progressive ataxia did not show any olivary change. These changes on MRI are considered to indicate pseudo-hypertrophy of the inferior olives, although this is not consistently shown by the imaging method.
    Type of Medium: Electronic Resource
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