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Autosomal recessive duchenne like muscular dystrophy: Molecular and histochemical results
Author(s) -
McGuire Stephen A.,
Fischbeck Kenneth H.
Publication year - 1991
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880141212
Subject(s) - duchenne muscular dystrophy , dystrophin , muscular dystrophy , abnormality , medicine , x linked recessive inheritance , x chromosome , genetics , biology , gene , psychiatry
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.