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- Title
An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report.
- Authors
Tremolizzo, L.; Galbussera, A.; Tagliabue, E.; Fermi, S.; Bruttini, M.; Lamperti, C.; Moggio, M.; Appollonio, I.; Ferrarese, C.; Curtò, N
- Abstract
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.
- Subjects
ITALY; DYSTROPHY; WOMEN; NEUROMUSCULAR diseases; DIAGNOSIS; ITALIANS; COMPARATIVE studies; RESEARCH methodology; MEDICAL cooperation; PROTEINS; RESEARCH; RESEARCH funding; EVALUATION research; SKELETAL muscle; OCULOPHARYNGEAL muscular dystrophy; SEQUENCE analysis
- Publication
Neurological Sciences, 2007, Vol 28, Issue 6, p339
- ISSN
1590-1874
- Publication type
journal article
- DOI
10.1007/s10072-007-0850-9