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Am J Med Genet. 1992 Mar 1;42(5):688-92.

Two distinct mutations in a single dystrophin gene: chance occurrence or premutation?

Author information

1
Australian Neuromuscular Research Institute, QEII Medical Centre, Nedlands, Western Australia.

Abstract

We report on a kindred segregating 2 distinct mutations of a dystrophin gene. DNA analysis showed that the second mutation, a deletion, arose in the same gene carrying the primary defect which produced a Becker phenotype in the affected males. The DNA data for this family are reported and the alternative explanations of chance occurrence and premutation are discussed to explain these unusual findings.

PMID:
1632439
DOI:
10.1002/ajmg.1320420512
[Indexed for MEDLINE]

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