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

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

patient [pedigree number]

sex

age of onset

action myoclonus

tonic clonic seizures

ataxia

demyelinating polyneuropathy

hearing impairment

age at death [yrs]

II:1

m

14

14

20

14

+

NA

31

II:6

f

20

20

20

20

+

26

34

II:3

m

20

26

32

20

+

NA

38

II:5

f

14

-

14

-

unclear

-

alive

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