| Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus. | |
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MedLine Citation:
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PMID: 7487558 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To investigate whether two forms of the scapuloperoneal syndrome result from genetic defects allelic to facioscapulohumeral dystrophy (FSHD). DESIGN: Two kindreds with scapuloperoneal syndromes underwent clinical, histologic, and electrophysiologic evaluation followed by genetic evaluation with probes closely linked to FSHD. RESULTS: Although the proband in each kindred had facial, scapular stabilizer, and humeral weakness, raising the possibility of FSHD, evaluation of multiple other affected family members showed patterns of involvement that were clinically distinct from typical FSHD. In addition, DNA studies showed no linkage to the 4q35 FSHD locus in either kindred. CONCLUSION: We conclude that these two forms of the scapuloperoneal syndrome are genetically distinct from FSHD. |
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Authors:
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R Tawil; G J Myers; B Weiffenbach; R C Griggs |
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Publication Detail:
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Type: Case Reports; 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: Archives of neurology Volume: 52 ISSN: 0003-9942 ISO Abbreviation: Arch. Neurol. Publication Date: 1995 Nov |
Date Detail:
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Created Date: 1995-12-12 Completed Date: 1995-12-12 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 0372436 Medline TA: Arch Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1069-72 Citation Subset: AIM; IM |
Affiliation:
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Department of Neurology, School of Medicine and Dentistry, University of Rochester (NY), USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Female Genetic Markers Humans Humerus Linkage (Genetics)* Male Middle Aged Neuromuscular Diseases / genetics*, pathology Pedigree Peroneal Nerve Scapula |
| Grant Support | |
ID/Acronym/Agency:
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M01RR00044/RR/NCRR NIH HHS; NS22099/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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