Article
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters.
Human molecular genetics - 1 Jun 1993
Cobo A, Martinez J M, Martorell L, Baiget M, Johnson K
Abstract excerpt
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...
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