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.
- Duchenne muscular dystrophy
- autosomal recessive muscular dystrophy
- limb‐girdle dystrophy
ASJC Scopus subject areas
- Clinical Neurology
- Cellular and Molecular Neuroscience
- Physiology (medical)