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
Artigo
em Inglês
| 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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Índice:
LILACS (Américas)
Assunto principal:
Biologia Molecular
/
Distrofias Musculares
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Ciênc. cult. (Säo Paulo)
Assunto da revista:
Ciência
Ano de publicação:
1993
Tipo de documento:
Artigo
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