Instability versus predictability: the molecular diagnosis of myotonic dystrophy

In this issue of the Journal a series of papers assesses the utility of molecular analysis of the mutation within the presumed myotonic dystrophy (DM) gene in the management of this disorder. A detailed correlation of phenotype and genotype will require larger and more comprehensive studies, but alr...

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Bibliographic Details
Published in:Journal of medical genetics 1992-11, Vol.29 (11), p.761-765
Main Authors: Suthers, G K, Huson, S M, Davies, K E
Format: Article
Language:English
Subjects:
Biological and medical sciences
Diseases of striated muscles. Neuromuscular diseases
DNA Mutational Analysis
Female
Genetics, Population
Genotype
Humans
Infant, Newborn
instability
man
Medical sciences
Molecular Biology
myotonic dystrophy
Myotonic Dystrophy - congenital
Myotonic Dystrophy - diagnosis
Myotonic Dystrophy - genetics
Neurology
Phenotype
Pregnancy
Repetitive Sequences, Nucleic Acid
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Summary:In this issue of the Journal a series of papers assesses the utility of molecular analysis of the mutation within the presumed myotonic dystrophy (DM) gene in the management of this disorder. A detailed correlation of phenotype and genotype will require larger and more comprehensive studies, but already it is clear that molecular analysis will be the basis for the presymptomatic and prenatal diagnosis of DM in the future. This editorial reviews the development of these molecular studies and their application in clinical practice.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.29.11.761