Document Detail


Presymptomatic diagnosis of SMA III by genotype analysis.
MedLine Citation:
PMID:  8434634     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Linkage analysis and prenatal prediction in families segregating autosomal recessive spinal muscular atrophy (SMA) has become feasible since the assignment of the locus responsible for type I-III SMA to region 5q12-q13.3. We have performed a segregation study of SMA in Italian families using molecular probes and highly informative PCR-based polymorphic markers. In one family, a 7-year-old boy affected with type III SMA and an 8-year-old apparently healthy brother had identical haplotypes. These findings prompted us to reexamine the apparently unaffected child. His neurological exam was normal. However, the electromyography (EMG) showed a pattern consistent with chronic SMA. To our knowledge this is the first example of presymptomatic diagnosis of SMA based on genotype analysis.
Authors:
C Brahe; S Zappata; I Velonà; E Bertini; S Servidei; P Tonali; G Neri
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  45     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Feb 
Date Detail:
Created Date:  1993-03-17     Completed Date:  1993-03-17     Revised Date:  2012-02-27    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  408-11     Citation Subset:  IM    
Affiliation:
Istituto di Genetica Medica, Facoltà di Medicina A. Gemelli, Università Cattolica, Rome, Italy.
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
Child
DNA / genetics
Electromyography
Genotype
Humans
Male
Molecular Sequence Data
Muscular Atrophy, Spinal / classification,  diagnosis*,  genetics*
Pedigree
Grant Support
ID/Acronym/Agency:
66//Telethon
Chemical
Reg. No./Substance:
9007-49-2/DNA

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


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