| Autor: |
Tremolizzo L; Department of Neurology, University of Milano-Bicocca S. Gerardo Hospital, Via Pergolesi 33, I-20052, Monza (MI), Italy. lucio.tremolizzo@unimib.it, Galbussera A, Tagliabue E, Fermi S, Bruttini M, Lamperti C, Moggio M, Curtò N, Appollonio I, Ferrarese C |
| Jazyk: |
angličtina |
| Zdroj: |
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2007 Dec; Vol. 28 (6), pp. 339-41. Date of Electronic Publication: 2008 Jan 04. |
| DOI: |
10.1007/s10072-007-0850-9 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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