Clinical Neuroscience

[The role of PCR in the diagnosis of duchenne/becker muscular dystrophy]

FODOR Flóra1, MECHLER Ferenc1, DIÓSZEGHY Péter1, ÁDÁNY Róza1

MAY 20, 1993

Clinical Neuroscience - 1993;46(05-06)

[The majority of Duchenne/Becker muscular dystrophy (DMD/BMD) cases are caused by deletions affecting exons of the dystrophin gene, which results in defective protein synthesis. In order to detect deletions the multiplex PCR method was utilized on the DNA of 15 DMD/BMD patients by amplifying 9 deletion-prone exons as a first step followed by a further 5 exons when necessary. Delection were found in more than 50% of patients by this method which correlates well with that expected from the literature data. This rapid and reliable method is an important diagnostic tool in the precise characterization of muscular dystrophies.]

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  1. Debreceni Orvostudományi Egyetem Klinikai Kémiai Intézet és Ideg- és Elmegyógyászati Klinika

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[New data in the classification, diagnostic and in the therapy of cerebrovascular diseases]

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[Five rare case histories of intracranial occlusive cerebrovascular disease with arteriovenous malformation are presented. In 2 cases the middle cerebral artery and in a further 2 cases the internal carotid artery were occluded (3 ipsilateral frontal and 1 parietal angiomas). In the fifth case a temporal angioma and ipsilateral posterior cerebral artery occlusion was detected. In the first 4 cases extra-intracranial arterial bypass was performed before the excision of the malformation. ]

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