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Neuromuscul Disord. 1992;2(5-6):405-11.

Molecular analysis for the myotonic dystrophy mutation in neuromuscular disorders.

Author information

1
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.

Abstract

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.

PMID:
1363747
DOI:
10.1016/s0960-8966(06)80012-x
[Indexed for MEDLINE]

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