Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy.
Neurol India
;
2003 Sep; 51(3): 367-9
Article
in English
| IMSEAR
| ID: sea-120661
ABSTRACT
The reading frame hypothesis has been proposed to explain the molecular basis of two allelic forms of muscular dystrophies, Duchenne/Becker muscular dystrophy (D/BMD). To evaluate the hypothesis in Indian D/BMD patients, we analyzed deletion of dystrophin exons in 147 DMD and 19 BMD patients. Our studies showed deviation of more than 30% from the reading frame hypothesis in DMD patients (47/147). The present results implicate a need to reevaluate the reading frame hypothesis.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Phenotype
/
Humans
/
Male
/
Child
/
Dystrophin
/
Frameshift Mutation
/
Gene Deletion
/
Muscular Dystrophy, Duchenne
/
Genotype
Language:
English
Journal:
Neurol India
Year:
2003
Type:
Article
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