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Table 1 Individual patient demographic profile

From: Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study

Patient Age Gender Ethnicity BMI ALMS Protein ALMS Protein Infantile CM
mutation change mutation change
1 21 Male White British 32.6 c.6526C > T p.Gln2176X c.11101C > T p.Arg3701X Yes
2 19 Male White British 27.1 c.6526C > T p.Gln2176X c.11101C > T p.Arg3701X No
3 18 Male White British 32.3 c.8932C > T p.GLN2978X c.5356A > G p.ASN1786Asp Yes
4 17 Male White British 26.4 c.10769delC p.Thr3590LysfsX6 c.5356A > G p.Asn1786Asp Yes
5 20 Male White British 31.5 c6526C > T p.Gln217X c11101C > T pArg3701X No
6 49 Male White British 31.9 c.10483C > T p.Gln3495X c.10775delC P.Threo3592LysfsX6 No
7 40 Male White British 38.4 c.1729delA p.Arg577Glyfsx17 c.10477C > T p.Gln3493X No
8 25 Female Mixed race 30.0 c.2218dupA p.ThreoAsnfsX2 c.1069C > T p.Arg3657X No
9 45 Male White British 35.3 c.1874A > G p.His623Arg    No
10# 44 Male White British 28.2 c.10769delC p.Thr3590LysfsX6 c.11410C > T p.Arg38404X Yes
11 21 Female White British 26.4 c6584delA p.Lys2195SerfX10 C1008_1009delT pCys336fsX1 Yes
12 22 Female White British 27.6 c.6823C > T p.Arg2275X c.9535C > T P.Arg3179X No
13 26 Male White British 22.7 c.6823C > T p.Arg2275X c.9535C > T P.Arg3179X No
14 29 Male White British 31.6 c.6895delG p.val2299TrpsX43 c.11443C > T p.Gln3815X No
15 43 Male White British 35.2 c.8995C > T p.Gln3493X c>9001C > T Gln3001 No
16 29 Female White British 27.0 c.8002C > T p.arg2668X c.10879C > T pArg3627x No
17 18 Male BritishPakistani 27.8 c.4937C > A p.Ser1646X    No
18 20 Male BritishPakistani 36.6 c.7544-200_767 + 1110del     No
19 19 Male BritishPakistani 26.8 c.7544-200_767 + 1110del     Yes
20 21 Female BritishPakistani 29.6 c.5075delC p.Pro1692LeufsX39 c.5075delC p.Pro1692LeufsX39 Yes
21 24 Female White British 26.5 Result awaited* - - - No
22 20 Male BritishPakistani 25.9 c.4937C > A p.Ser2646STOP    Yes
23 19 Female British Indian 19.4 c.2041C > T p.Arg681X c.2041C > T p.Arg681X Yes
24 23 Male British Indian 28.9 c.2041C > T p.Arg681X c.2041C > T p.Arg681X No
25 32 Female White British 25.7 C11101C > T p.R3701X    No
26 20 Female White Australian 37.7 c.7911dupC p.Asn2638Glnfs24    No
  1. #End-stage kidney disease on dialysis
  2. *Genetic data pending at time of publication. Patient fulfills the clinical diagnostic criteria for ALMS on serial assessment