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

Lancet. 1989 Mar 4;1(8636):466-8. doi: 10.1016/s0140-6736(89)91367-6.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Factors
  • Chromosome Deletion*
  • Creatine Kinase / blood
  • DNA Probes / analysis*
  • Diagnosis, Differential
  • Dystrophin
  • Evaluation Studies as Topic
  • Female
  • Genetic Carrier Screening
  • Genetic Counseling
  • Humans
  • Hypertrophy
  • Leg / pathology
  • Male
  • Muscle Proteins / genetics*
  • Muscular Dystrophies / blood
  • Muscular Dystrophies / classification
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics
  • Phenotype

Substances

  • DNA Probes
  • Dystrophin
  • Muscle Proteins
  • Creatine Kinase