TY - JOUR
T1 - An apparently sporadic case of oculopharyngeal muscular dystrophy
T2 - The first Italian report
AU - Tremolizzo, Lucio
AU - Galbussera, A.
AU - Tagliabue, E.
AU - Fermi, S.
AU - Bruttini, M.
AU - Lamperti, C.
AU - Moggio, M.
AU - Appollonio, I.
AU - Ferrarese, C.
PY - 2007/9
Y1 - 2007/9
N2 - 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.
AB - 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.
KW - De novo mutation
KW - Oculopharyngeal muscular dystrophy
KW - PABPN1
KW - Sporadic
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U2 - 10.1007/s10072-007-0850-9
DO - 10.1007/s10072-007-0850-9
M3 - Article
C2 - 18175083
AN - SCOPUS:38049078661
VL - 28
SP - 339
EP - 341
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
IS - 6
ER -