Table 2.

Mutation detection rate vs clinical diagnosis

	Mutation detected	No mutation detected	Total
‘Classical’ MED	13	3	16
Possible MED variant	1	4	5
Total	14	7	21

Illustrates the mutation detection rate in relation to the clinical diagnosis. In 81% of patients (13/16) diagnosed with classic MED, a mutation in one of the ‘MED-disease’ genes was identified. In those patients with an atypical clinical–radiological presentation, the mutation detection rate was only 20% (1/5). The overall mutation detection rate, considering both classical and atypical presentations, was therefore 67% (14/21).