Article
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.
European journal of human genetics : EJHG - 1 Oct 2000
Ginjaar I B, Kneppers A L, v d Meulen J D, Anderson L V, Bremmer-Bout M, van Deutekom J C, Weegenaar J, den Dunnen J T, Bakker E
Abstract excerpt
Within one X-linked muscular dystrophy family, different phenotypes for three males occurred: (1) a severely affected Becker patient with cardiomyopathy, (2) a mildly affected Becker patient, and (3) an apparently healthy male with elevated serum CK levels. In the muscle biopsy specimen of patient2 one out of four antibodies (NCL-DYS1) showed absence of dystrophin. The protein truncation test detected a truncated...
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