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Table 1 Overview of myotilinopathy patients included in this study

From: New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

ID Gender Age at biopsy [years] Muscle MYOT mutation
1 Male 78 biceps brachii p.Ser60Phe
2 Female 64 gastrocnemius p.Ser60Cys
3 Female 74 vastus lateralis p.Ser55Phe
4 Female 82 tibialis anterior p.Ser60Phe
5 Male 80 vastus lateralis p.Lys36Glu
6 Female 81 vastus lateralis p.Lys36Glu
7 Male 78 biceps brachii p.Ser60Phe
8 Male 52 vastus lateralis p.Ser60Cys
9 Male 72 gastrocnemicus p.Ser60Cys
10 Male 77 tibialis anterior p.Ser60Cys
11 Female 85 vastus lateralis p.Ser60Cys
12 Male 65 vastus lateralis p.Ser60Phe
13 Female 69 deltoideus p.Ser60Cys
14 Male 71 tibialis anterior p.Ser60Phe
15 Male 80 vastus lateralis p.Ser60Phe