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Case Reports
. 1984;27(3):173-7.

Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation

  • PMID: 6334482
Case Reports

Turner's syndrome and Duchenne muscular dystrophy in a girl with an X; autosome translocation

L Bjerglund Nielsen et al. Ann Genet. 1984.

Abstract

A balanced de novo (X;9) translocation was observed in a patient with progressive muscular dystrophy of Duchenne's type (DMD), Turner's syndrome, epilepsy and mental retardation. The involvement of the paternal X is suggested. The assignment of the gene locus for DMD is confirmed on Xp21.

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