Oculopharyngeal muscular dystrophy: Clinical and neurophysiological features.
نویسندگان
چکیده
منابع مشابه
Ocular findings in muscular dystrophies
Muscular dystrophies are a heterogeneous class of inherited disorders presenting with different clinical, genetic, and biochemical features. Muscular dystrophies include Duchennemuscular dystrophy (DMD) and Becker muscular dystrophy (BMD) myotonic dystrophy (DM), oculopharyngeal muscular dystrophy (OPMD), facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), dist...
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PURPOSE To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD). METHODS Clinical and ophthalmologic examinations were conducted on available living family members from three generations. Genomic DNA was extracted from peripheral blood leukocyte...
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An English family is described several members of which have suffered from oculopharyngeal muscular dystrophy. No symptoms were noticed in any affected members of the family until aged at least 50 years. An autosomal dominant pattern of inheritance is clearly shown.
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OCtrLAR ~tYOPATHY is a relatively uncommon type of muscular dystrophy. The clinical entity has boon &scribed under various titles, some of which are: progressive dystrophy of the external ocular muscles, I chronic external ophthalmoplegia, 2 descending ocular myopathy, s oculopharyngeal muscular dystrophy. 4 The usual clinical features are ptosis, a variable degree of restriction of extraocular...
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Introduction. Oculopharyngeal muscular dystrophy (OPMD) is an autosomal-dominant muscle disorder of adult onset, which appears in individuals with a mutation on the nuclear poly(A) binding protein (PABN1) gene [1]. OPMD is characterized by bilateral, progressive muscle weakness, muscle fiber necrosis and muscle infiltration by fatty tissue. The development of non-invasive measures of the degree...
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ورودعنوان ژورنال:
- Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
دوره 126 12 شماره
صفحات -
تاریخ انتشار 2015