Dropped-head in recessive oculopharyngeal muscular dystrophy
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- 作者：Matteo Garibaldia ; matteo.garibaldi@uniroma1.it" class="auth_mail" title="E-mail the corresponding author ; Elena Maria Pennisib ; Mirella Bruttinic ; d ; Veronica Bizzarric ; d ; Elisabetta Buccia ; Stefania Morinoa ; Caterina Talericoe ; Antonella Stoppacciaroe ; Alessandra Renieric ; d ; Giovanni Antoninia
- 关键词：Oculopharyngeal muscular dystrophy ; Recessive OPMD ; Dropped-head
- 刊名：Neuromuscular Disorders
- 出版年：2015
- 出版时间：November 2015
- 年：2015
- 卷：25
- 期：11
- 页码：869-872
- 全文大小：825 K
文摘
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First case of dropped-head in recessive OPMD expanding clinical phenotype.
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Eighth case of recessive OPMD worldwide reported and the first one in Italy.
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Dropped-head could be an unusual presentation of recessive OPMD.
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Later onset and phenotype variability seem to be more frequent in recessive OPMD.
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Recessive OPMD could be underdiagnosed.