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

Table 1 Overview of myotilinopathy patients included in this study

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

ISSN: 2051-5960