Dystrophin deficiency in a case of congenital myopathy

A. Prelle, R. Medori, M. Moggio, H. W. Chan, A. Gallanti, G. Scarlato, E. Bonilla

Research output: Contribution to journalArticle

Abstract

We studied a 5-year-old boy who had the "floppy infant syndrome" and a dystrophic pattern on muscle biopsy. According to the clinical presentation and the histopathological findings the diagnosis of congenital muscular dystrophy with associated intellectual retardation was made. Immunohistochemical and immunoblot studies using anti-dystrophin antibodies showed complete absence of the protein in the patient's muscle. DNA analysis using cDNA probes showed a deletion at the 5′ end of the dystrophin gene. Our observations on this patient suggest a new phenotypical variant of Duchenne muscular dystrophy.

Original languageEnglish
Pages (from-to)76-78
Number of pages3
JournalJournal of Neurology
Volume239
Issue number2
DOIs
Publication statusPublished - Feb 1992

    Fingerprint

Keywords

  • Congenital muscular dystrophy
  • Duchenne muscular dystrophy
  • Dystrophin

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Prelle, A., Medori, R., Moggio, M., Chan, H. W., Gallanti, A., Scarlato, G., & Bonilla, E. (1992). Dystrophin deficiency in a case of congenital myopathy. Journal of Neurology, 239(2), 76-78. https://doi.org/10.1007/BF00862976