Molecular analysis for the myotonic dystrophy mutation in neuromuscular disorders.
A variable expansion of an unstable CTG repeat has been identified as the causal mutation for myotonic dystrophy. Standard molecular genetic techniques can now supplement traditional assessment protocols in a variety of clinical neurological situations where diagnostic uncertainty prevailed. Southern analysis using DNA probes which identify the expanded sequence, supplemented by direct PCR analysis for repeat number, provides a specific sensitive diagnostic test for myotonic dystrophy.
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
J C
JC
MacMillan
J
J
Myring
H G
HG
Harley
W
W
Reardon
P S
PS
Harper
D J
DJ
Shaw
D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length