Original Communications

Journal of Neurology

, Volume 240, Issue 2, pp 105-112

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy

II. Correlation of phenotype with genetic and protein abnormalities
  • K. M. D. BushbyAffiliated withDepartment of Human Genetics
  • , D. Gardner-MedwinAffiliated withChildren's Department, Newcastle General Hospital
  • , L. V. B. NicholsonAffiliated withDepartment of Human Genetics
  • , M. A. JohnsonAffiliated withMuscular Dystrophy Group Laboratories, Newcastle General Hospital
  • , I. D. HaggertyAffiliated withDepartment of Human Genetics
  • , N. J. CleghornAffiliated withDepartment of Human Genetics
  • , J. B. HarrisAffiliated withMuscular Dystrophy Group Laboratories, Newcastle General Hospital
  • , S. S. BhattacharyalAffiliated withDepartment of Human Genetics

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We have correlated a detailed clinical assessment of 67 patients with proven Becker muscular dystrophy with the results from genetic and protein analyses. There was an overall deletion frequency of 80%, rising to 92.6% in the large group of patients defined on clinical grounds as being of “typically” mild severity. The deletions in this group were all clustered in the region of the gene between exons 45 and 59; the most common deletion was of exons 45–47 and all but one started at exon 45. No similar deletions were seen in the patients with more severe disease, in whom the diverse genetic defects included a duplication and a very large deletion. Dystrophin patterns in the “typical” group were also very characteristic, and in both groups were as predicted from the genetic defect, the size of deletions being inversely proportional to the size of the protein produced.

Key words

Muscular dystrophy Phenotype-genotype correlation Dystrophin Gene deletions