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. Author manuscript; available in PMC: 2019 Jun 21.
Published in final edited form as: Mol Genet Metab. 2017 Jun 21;123(2):177–183. doi: 10.1016/j.ymgme.2017.06.008

Table 1. Serial plasma troponin I concentrations in a pedigree with Danon disease.

Patient and Age c864 + 4A > G Mutation Status Clinical Severity BMI Mean troponin I Range Standard Deviation
Case A. Eldest brother
Age 21
5 years troponins
Hemizygous Deceased
Severe
37 4.6 2.0–6.3 1.5
Case B, Middle Son
Aged 23
7 years of troponins
Hemizygous Deceased
Severe
28 8.7 0.8–40 11.0
Case C, Youngest Son
Age 21
4 years of troponins
Hemizygous Severe 37 7.0 3.8–18.4 6.3
Case D, Their mother
Age 57
7 years of troponins
Heterozygous Moderate 41.6 0.30 0.15–0.55 0.12
Case G, Their grandmother
Age 76
1 year of troponins
Heterozygous Moderate 26.8 0.13 0.1–0.15 0.03
Case F, Their Aunt
Age 62
6 years of troponins
Heterozygous Mild/Moderate 33.1 0.14 0.07–0.18 0.05
Case E, Their cousin
Age 31
6 years of troponins
Hemizygous Minimal 25.4 0.07 N/A 0.05

Note the higher body mass index values seen in the more severely affected children.

Reference range for healthy adults: 0–0.1 μg/L.