Normal dystrophin in McLeod myopathy

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. Immun...

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Veröffentlicht in:Annals of neurology 1990-11, Vol.28 (5), p.720-722
Hauptverfasser: Danek, Adrian, Witt, Thomas N., Stockmann, H. B. A. C., Weiss, Barbara J., Schotland, Donald L., Fishbeck, Kenneth H.
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Sprache:eng
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Zusammenfassung: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.
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.410280521