The impact of molecular biology for the understanding and prevention of hereditary myopathies in the Brazilian population
Ciênc. cult. (Säo Paulo)
;
45(3/4): 241-8, May-Aug. 1993. ilus, graf
Article
in English
| LILACS
| ID: lil-201874
ABSTRACT
The localization and cloning of the gene resposible for Duchenne/Becker muscular dystrophy followed by the identification of its product brought great advances to the field of muscular dystrophies. More recently, other genes responsible for other forms of muscular dystrophies have been identified such as limb-girdle muscular dystrophy, facioscapulohumeral muscular dystrophy and myotonic dystrophy. Our group has already studied over 9,000 individuals belonging to families with patients affected by different forms of hereditary myopathies. In this article we are illustrating how the introduction of molecular biology technology improved clinical and differential diagnosis, the preventionnn of new cases (through identification of carriers and prenatal diagnosis) and the comprehension of the underlying pathological mechanisms which will be fundamental for future treatments based on gene therapy.
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Index:
LILACS (Americas)
Main subject:
Molecular Biology
/
Muscular Dystrophies
Type of study:
Prognostic study
Limits:
Humans
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Ciênc. cult. (Säo Paulo)
Journal subject:
Science
Year:
1993
Type:
Article
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