An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report.

An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report. Research Abstract Details 

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An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report. Abstract Text:

L Tremolizzo,A Galbussera,E Tagliabue,S Fermi,M Bruttini,C Lamperti,M Moggio,I Appollonio,C Ferrarese,

Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be included in the differential diagnosis even in the absence of a positive family history.

An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report. Publishing Authors By Initials

L Tremolizzo,A Galbussera,E Tagliabue,S Fermi,M Bruttini,C Lamperti,M Moggio,I Appollonio,C Ferrarese,

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An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neurological sciences : official journal of the It

VOLUME: 28

Page Numbers: 339-41

Journal Abbreviation: Neurol. Sci.

ISSN: 1590-1874

DAY: 4

MONTH: 01

YEAR: 2008

An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report. Information

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LANGUAGE: eng

NlmUniqueID: 100959175

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Grant and Affiliation Information for An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report.

AFFILIATION: Department of Neurology, University of Milano-Bicocca S. Gerardo Hospital, Via Pergolesi 33, I-20052, Monza (MI), Italy.

Country: Italy

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MEDLINETA: Neurol Sci

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