Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy

Neuromuscul Disord. 1993 Jan;3(1):57-64. doi: 10.1016/0960-8966(93)90042-i.


We have analysed the results of clinical assessment, X-inactivation status, deletion screening and dystrophin analysis in eight manifesting carriers of Duchenne and Becker muscular dystrophy (DMD and BMD). Only two had a prior family history of X-linked muscle disease, all had normal karyotypes and none were twins. Presentation varied from 2 to 25 yr and progression varied from a DMD-like severity to a very mild BMD-like course. In one girl the initial symptoms were restricted to learning difficulties. Where methods for assessing X-inactivation were informative, three patients showed an abnormal pattern. However, in one patient, the obligate carrier daughter of a BMD patient who had presented at the age of 2 yr, X-inactivation appeared normal in lymphocytes and muscle. While dystrophin analysis seems to be reliable in identifying manifesting carriers of DMD and BMD, the relationship between X-inactivation status, dystrophin analysis and phenotype is not simple.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Dystrophin / analysis*
  • Family
  • Female
  • Gene Deletion
  • Genetic Carrier Screening*
  • Humans
  • Karyotyping
  • Male
  • Middle Aged
  • Muscles / pathology*
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Muscular Dystrophies / physiopathology
  • Mutation*
  • Polymerase Chain Reaction
  • X Chromosome*


  • Dystrophin