title: Distinction of Becker from limb-girdle muscular dystrophy by means of dystrophin cDNA probes.
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 counselling of affected families.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Cardiff.
authors.forename: A
authors.initials: A
authors.lastname: Norman
authors.forename: N
authors.initials: N
authors.lastname: Thomas
authors.forename: J
authors.initials: J
authors.lastname: Coakley
authors.forename: P
authors.initials: P
authors.lastname: Harper
mesh_terms: D000328:Adult; D000367:Age Factors; D002872:Chromosome Deletion; D003402:Creatine Kinase / Q000097:blood; D015342:DNA Probes / Q000032:analysis*; D003937:Diagnosis, Differential; D016189:Dystrophin; D005069:Evaluation Studies as Topic; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D006984:Hypertrophy; D007866:Leg / Q000473:pathology; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000097:blood / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype
chemical_list: D015342:DNA Probes; D016189:Dystrophin; D009124:Muscle Proteins; D003402:Creatine Kinase