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Microdeletions in patients with X‐linked muscular dystrophy: molecular‐clinical correlations
Author(s) -
Lindlöf M.,
Kääriäinen H.,
Ommen G. J. B.,
Chapelle A.
Publication year - 1988
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1988.tb03424.x
Subject(s) - duchenne muscular dystrophy , genetics , muscular dystrophy , x chromosome , x linked recessive inheritance , disease , biology , gene , medicine
The DNA from 68 patients with X‐linked (Duchenne and Becker) muscular dystrophy belonging to 49 unrelated families was analyzed for microdeletions using 13 closely linked or gene‐specific DNA‐markers. Fourteen patients from eight families showed a deletion involving at least one of the markers used, giving a deletion frequency of 16%. The proportion of families with deletions was 36% in the Becker and 8% in the Duchenne form of the disease. With one exception, the extent of the deletion was different in different families. All living, affected males from the same family carried the same deletion. The extent or the localization of the deletion did not correlate with clinical features such as severity of disease or mental retardation.