Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features

Table 2 Onset of renal and cardiovascular features [yrs] in members of the AMRF pedigree depicted in Figure 1 and Figure 2

patient [pedigree number]	sex	age of onset	dialysis	renal trans-plan-tation	dilated cardio-myopathy	hypertension	age at death [yrs]
II:1	m	14	18	-	< 14	+	31
II:6	f	20	22	-	< 21	+	34
II:3	m	20	26	31	-	+	38
II:5	f	14	-	-	-	+	alive

If known, the age of onset [yrs] of a feature is indicated; "+" = present but age of onset unknown; "-" = absent; "NA" = not assessed.

ISSN: 1471-2377