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© 1993 Oxford University Press

OTHER

Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters

A. Cobo, J.M. Martinez1, L. Martorell, M. Baiget*, and K. Johnson2

Unitat de Genetica Molecular, Hospital de la Santa Creu i Sant Pau Barcelona 08025 1Servei de Neurologia, Hospital de Sabadell Sabadell, Spain 2Department of Anatomy, Charing Cross and Westminster Medical School London W6 8RF, UK

* To whom correspondence should be addressed

Received November 25, 1992; Revised April 5, 1993; Accepted April 5, 1993

The genetic defect underlying myotonic dystrophy (DM) has been identified as the expansion of an unstable trinucleotide repeat sequence, and this discovery has led to new approaches to diagnosis and genetic counselling in families with the disorder. We report the genetic analysis of a consanguineous DM family in which two asymptomatic sisters had been shown to be homozygous for the ‘at risk’ haplotype. PCR analysis of the region spanning the trinucleotide expansion demonstrated that both sisters possessed two alleles with repeat sizes normally seen in minimally affected patients. Extensive clinical examination failed to demonstrate any of the symptoms of DM in these women. The implications of this finding, both for understanding the disease mechanism, and for genetic counselling in such situations are discussed.


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