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Normal dystrophin in McLeod myopathy
Author(s) -
Danek Adrian,
Witt Thomas N.,
Stockmann H. B. A. C.,
Weiss Barbara J.,
Schotland Donald L.,
Fishbeck Kenneth H.
Publication year - 1990
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410280521
Subject(s) - dystrophin , myopathy , locus (genetics) , duchenne muscular dystrophy , muscle biopsy , muscular dystrophy , subclinical infection , pathology , medicine , abnormality , gene , genetics , biopsy , biology , psychiatry
Dystrophin and its gene were studied in a patient with McLeod syndrome. This X‐linked recessive myopathy has been localized to Xp21, as the Duchenne muscular dystrophy gene locus, which codes for dystrophin. Histopathological study of the patient's muscle showed mild subclinical myopathy. Immunological studies of dystrophin in two separate biopsy specimens and analysis of dystrophin gene DNA from a blood sample did not detect and abnormality. This suggests that the Duchenne muscular dystrophy gene, albeit close to the McLeod locus, is not involved in McLeod myopathy.