Abstract：
INTRODUCTION:Duchenne/Becker muscular dystrophy (DMD/B) is one of the commonest myopathies, with an incidence of 1/3,500 male live births. It is characterized by the slow degeneration of muscle fibres, so that the patient has become an invalid by the age of 10 years, followed by death from respiratory or cardiac failure. It has a sex linked recessive mode of inheritance. DEVELOPMENT:The gene causing this disorder is the DMD gene and is found on the short arm of the X chromosome. The commonest mutations of this gene are deletions. Many molecular techniques for study of the disorder have been developed over the years. These include the Southern Blot, polymerase chain reaction (PCR), use of the Short Tandem Repeat (STR), polymorphic length restriction fragments (RFLP), Western Blot for the study of the protein and others. CONCLUSIONS:In this paper we review the diagnostic tests most widely used in this disease. These have permitted improved study of the various families affected and thus improved the quality of life of the families at risk.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Montejo-Pujadas Y,Zaldívar-Vaillant T,Acevedo-López AMsubject
Has Abstractpub_date
2002-02-01 00:00:00pages
278-81issue
3eissn
0210-0010issn
1576-6578pii
rn2001286journal_volume
34pub_type
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更新日期：2002-11-01 00:00:00
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