| Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. | |
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MedLine Citation:
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PMID: 8651646 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Facioscapulohumeral muscular dystrophy (FSHD) is characterized by marked inter- and intrafamilial heterogeneity in its clinical expression. The contribution of genetic factors to this variability is not well characterized. We examined the relationship of phenotype to genotype in a clinically and genetically well-defined FSHD population. Quantitative isometric myometry (QMT) scores, normalized for age, gender, and height, were used to quantify disease severity. We found a significant (r = 0.92, p < 0.004) correlation between disease severity and the size of the 4q35-associated deletion. In addition, when relative disease severity of parent-offspring pairs was compared, the offspring were found to be significantly more severely affected (p = 0.011). This generational effect suggests the presence of anticipation in FSHD and raises the possibility of an underlying dynamic mutation. |
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Authors:
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R Tawil; J Forrester; R C Griggs; J Mendell; J Kissel; M McDermott; W King; B Weiffenbach; D Figlewicz |
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Publication Detail:
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Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Annals of neurology Volume: 39 ISSN: 0364-5134 ISO Abbreviation: Ann. Neurol. Publication Date: 1996 Jun |
Date Detail:
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Created Date: 1996-07-24 Completed Date: 1996-07-24 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7707449 Medline TA: Ann Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 744-8 Citation Subset: IM |
Affiliation:
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Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Blotting, Southern Chromosomes, Human, Pair 4 / genetics Female Gene Deletion* Genotype Humans Male Muscular Dystrophies / genetics* Phenotype Point Mutation Severity of Illness Index |
| Grant Support | |
ID/Acronym/Agency:
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MO1-RR0044/RR/NCRR NIH HHS; R01 NS22099/NS/NINDS NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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