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Probe p5B1.4 allowed direct identification of the myotonic dystrophy mutation in 108 of the 112 unrelated patients.In three families for whom the clinical and genetic data obtained with linked probes were ambiguous, the probe identified persons at risk for symptoms of this disorder and demonstrated that a possible sporadic case of myotonic dystrophy was familial.In one of these families the size of the unstable myotonic dystrophy-specific fragment decreased on transmission to offspring,who remained asymptomatic.The diagnosis of myotonic dystrophy is improved by the use of a probe that detects directly the mutation responsible for this disorder. |
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