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Distinction of Becker from Limb-Girdle Muscular Dystrophy by Means of Dystrophin cDNA Probes
Lancet 1:466-468, Norman,A.,et al, 1989
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Article Abstract
The similarity in clinical features of X-linked Becker muscular dystrophy (BMD)and the autosomal recessive limb-girdle(LGD)type of adult muscular dystrophy makes differential diagnosis of the isolated male case difficult.DNA probes complementary(cDNA)to the Duchenne/Becker muscular dystrophy gene product,dystrophin,can detect molecular deletions in 60-70% of affected subjects.Thirty-three patients with BMD or LGD(thirty isolated and three with an affected brother)were screened with a panel of cDNA probes for the whole dystrophin gene.Deletions were found in thirteen of eighteen(72%)patients with a diagnosis of BMD.Deletions were also found in four of the fifteen(27%)patients previously thought to have LGD,who were therefore reclassified as having BMD.All male patients with progressive muscular dystrophy of limb-girdle pattern should be routinely screened with these cDNA probes as a useful adjunct to their clinical diagnosis since the results have important implications for genetic counseling of affected families.
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DNA probes
dystrophin
genetic counselling
muscular dystrophy
muscular dystrophy,Becker
muscular dystrophy,differential diagnosis of
muscular dystrophy,limb-girdle
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