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Research article| Volume 119, ISSUE 1, P38-42, October 1993

Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype

DOI:https://doi.org/10.1016/0022-510X(93)90189-6
Intrafamilial variability in dystrophin abundance correlated with difference in the severity of the phenotype
Previous ArticleA fine structural study of Onuf's nucleus in sporadic amyotrophic lateral sclerosis
Next ArticleReciprocal expression of dystrophin and utrophin in muscles of Duchenne muscular dystrophy patients, female DMD-carriers and control subjects
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      Abstract

      In Duchenne muscular dystrophy, the progression of the disease is always severe and predictable, while in Becker dystrophy there is a wide variability (intra and inter familial) in the severity of the phenotype. We report here a family in which the proband, who is currently 15 years old, is showing a severe DMD progression, while his affected maternal uncle, aged 29, has a more benign course, compatible with BMD. No DNA deletion was detected in both patients. Dystrophin analysis through immunofluorescence and western blotting showed a negative pattern in the youngest patient and a positive one in the oldest. Apparently, this is the first report on intrafamilial variability in dystrophin abundance correlated with a difference in the severity of the phenotype.

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      Article info

      Publication history

      Accepted: April 8, 1993
      Received in revised form: March 29, 1993
      Received: December 18, 1992

      Identification

      DOI: https://doi.org/10.1016/0022-510X(93)90189-6

      Copyright

      © 1993 Published by Elsevier Inc.

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