Document Detail


Isolated facial diplegia and very late-onset myopathy in two siblings: atypical presentations of facioscapulohumeral dystrophy.
MedLine Citation:
PMID:  19826857     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Juan J Figueroa; John E Chapin
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-10-14
Journal Detail:
Title:  Journal of neurology     Volume:  257     ISSN:  1432-1459     ISO Abbreviation:  J. Neurol.     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-03-15     Completed Date:  2010-06-15     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  444-6     Citation Subset:  IM    
Affiliation:
Department of Neurology, University of New Mexico, Albuquerque, NM, USA. figueroa.juan@mayo.edu
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MeSH Terms
Descriptor/Qualifier:
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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