Distinction of Becker from limb-girdle muscular dystrophy by means of dystrophin cDNA probes.

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 counselling of affected families.