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Molecular biology of duchenne and Becker's muscular dystrophy: Clinical applications
Author(s) -
Gutmann David H.,
Fischbeck Kenneth H.
Publication year - 1989
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410260202
Subject(s) - dystrophin , duchenne muscular dystrophy , muscular dystrophy , locus (genetics) , prenatal diagnosis , molecular genetics , genetics , biology , medicine , bioinformatics , computational biology , gene , pregnancy , fetus
Recent advances in molecular genetics have led to the isolation of the gene defective in patients with Duchenne and Becker's muscular dystrophy and the characterization of its protein product, dystrophin. In this communication, the developments culminating in the identification of the Duchenne muscular dystrophy locus are reviewed. The practical applications of this research and pitfalls that limit prenatal diagnosis and carrier detection are discussed.