Document Detail


Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases.
MedLine Citation:
PMID:  8232958     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A gene for facioscapulohumeral muscular dystrophy (FSHD) has been linked to chromosome 4q35 in families with the disease. We have used recently characterized p13E-11/D4S809 probes that map near or within the FSHD gene to investigate eight sporadic cases of FSHD whose parents showed no signs of disease. Probe p13E-11/D4S809 detected novel DNA fragments in seven of the eight sporadic FSHD individuals and not in the parents, substantiating the clinical diagnosis. Two sisters with FSHD whose parents were clinically normal had a novel DNA fragment suggestive of germline mosaicism. Probe p13E-11/D4S809 is potentially helpful in genetic counseling. However, because this probe may also detect a locus unlinked to chromosome 4, because of possible genetic heterogeneity in FSHD, and because of the presence of recombinants in autosomal dominantly inherited families, closer markers or gene definition will be needed for accurate genetic counseling in other situations.
Authors:
R C Griggs; R Tawil; D Storvick; J R Mendell; M R Altherr
Related Documents :
11372548 - Clinical electrophysiology of two rod pathways: normative values and clinical application.
15173948 - Fundus autofluorescence in carriers of x-linked recessive retinitis pigmentosa associat...
7760328 - Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium wit...
12169228 - Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 ...
22312048 - The polynesian gene pool: an early contribution by amerindians to easter island.
23548928 - Cullin' plk1 from kinetochores.
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Neurology     Volume:  43     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1993 Nov 
Date Detail:
Created Date:  1993-12-20     Completed Date:  1993-12-20     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2369-72     Citation Subset:  AIM; IM    
Affiliation:
Department of Neurology, School of Medicine and Dentistry, University of Rochester, NY 14642.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Blotting, Southern
Chromosomes, Human, Pair 4*
DNA / analysis
Female
Genetic Markers
Humans
Male
Muscular Dystrophies / genetics*
Mutation
Grant Support
ID/Acronym/Agency:
MO1-RR00034/RR/NCRR NIH HHS; MO1-RR0004/RR/NCRR NIH HHS; NS22099/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Impaired fatty acid oxidation in children on valproic acid and the effect of L-carnitine.
Next Document:  Intranuclear rods in severe congenital nemaline myopathy.