Direct molecular diagnosis of myotonic dystrophy.

doi:10.1111/j.1399-0004.1993.tb03819.x

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Article

Direct molecular diagnosis of myotonic dystrophy.

Clinical genetics - 1 Jun 1993

Hecht B K, Donnelly A, Gedeon A K, Byard R W, Haan E A, Mulley J C

Abstract excerpt

Myotonic dystrophy (DM) arises from an unstable trinucleotide (CTGn) repeat sequence within the DM locus at 19q13.3. Twenty-three myotonic dystrophy families containing 205 persons with no symptoms, minimal manifestations, classic DM or congenital DM were investigated to validate the application...

Topics

Female
Genetic Linkage
Genotype
Heterozygote
Humans
Male
Myotonic Dystrophy
Pedigree
Phenotype
Polymerase Chain Reaction
Prenatal Diagnosis

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