Autosomal recessive duchenne like muscular dystrophy: Molecular and histochemical results

Stephen A. McGuire, Kenneth H. Fischbeck

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

An autosomal recessive disorder which mimics Duchenne muscular dystrophy has long been suspected as a cause of muscular dystrophy in karyotypically normal girls and in both boys and girls with consanguineous parents. Analysis of dystrophin now allows confirmation of the existence of this disorder. We report the results of this analysis in a brother and sister who have the typical clinical features of Duchenne muscular dystrophy, but no demonstrable abnormality in dystrophin or its gene.

Original languageEnglish (US)
Pages (from-to)1209-1212
Number of pages4
JournalMuscle & Nerve
Volume14
Issue number12
DOIs
StatePublished - Dec 1991

Keywords

  • Duchenne muscular dystrophy
  • autosomal recessive muscular dystrophy
  • dystrophin
  • limb‐girdle dystrophy

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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