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Why a positive genetic test for myotonic dystrophy type I does not always imply the right diagnosis

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  • Competing interests: None.

  • Consent was obtained for publication of the patient’s details described in the report

  • Myotonic dystrophy type I (DM1) is a progressive muscle disease with characteristic neurological symptoms such as distally accentuated paresis and myotonia. Diagnostic hallmarks include a positive family history (autosomal-dominant inheritance), myotonic discharges in the electromyogram and attendant metabolic disturbances.