[Diagnosis: not more than an agreement on disease entity].

Abstract excerpt

Once a hereditary disorder has been linked to a gene mutation, it is not uncommon to observe that patients with the mutation have a wider range of clinical features than was previously anticipated. This is the case with Friedreich's syndrome, of which the characteristic signs used to be progressive cerebellar ataxia and areflexia, with onset at an early age. Now that the causative mutation has been established,...

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