| Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy. | |
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MedLine Citation:
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PMID: 19826857 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report two elderly siblings with atypical myopathic weakness due to facioscapulohumeral dystrophy (FSHD). The proband presented with isolated facial diplegia, and her brother developed late onset facial and limb-girdle weakness. Both siblings had a 4q35 deletion with the same residual fragment size (25 kb) confirming FSHD. This report highlights the clinical heterogeneity and intrafamily variability of FSHD. |
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Authors:
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Juan J Figueroa; John E Chapin |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-10-14 |
Journal Detail:
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Title: Journal of neurology Volume: 257 ISSN: 1432-1459 ISO Abbreviation: J. Neurol. Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-15 Completed Date: 2010-06-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0423161 Medline TA: J Neurol Country: Germany |
Other Details:
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Languages: eng Pagination: 444-6 Citation Subset: IM |
Affiliation:
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Department of Neurology, University of New Mexico, Albuquerque, NM, USA. figueroa.juan@mayo.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Age Factors Age of Onset Aged Chromosomes, Human, Pair 4 / genetics DNA Mutational Analysis Disability Evaluation Disease Progression Facial Muscles / physiopathology* Female Gene Deletion Humans Male Middle Aged Muscular Diseases / etiology*, physiopathology* Muscular Dystrophy, Facioscapulohumeral / complications*, physiopathology* Mutation / genetics Phenotype Severity of Illness Index |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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