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. 2023 Mar 1;10(4):632–643. doi: 10.1002/acn3.51751

Table 1.

Genotype and clinical phenotype of patients with multisystem proteinopathy (MSP) and MSP‐like disorders.

Family Patient Ancestry Gene DNA nucleotide change Predicted protein change Phenotypes Muscle biopsy site
1 1 Italian VCP c.277C > T p.Arg93Cys M (LG), MND, PDB N/D
2 2 Unknown VCP c.278G > A p.Arg93His M (LG) Triceps
3 3 German VCP c.278G > A p.Arg93His M (scapulo‐distal), PN Tibialis anterior
4 4 Irish, Finnish, Portuguese VCP c.284G > A p.Arg95His M (LG), FTD Supraspinatus
5 5 German, English VCP c.464G > A p.Arg155His M (LG), MND 30 Biceps brachii
6 6 English, Irish VCP c.464G > A p.Arg155His M (LG) Tibialis anterior
7 7 German VCP c.464G > A p.Arg155His M (distal), PDB, PN 30 N/D
8 German VCP c.464G > A p.Arg155His M (LG) 30 Deltoid
8 9 Unknown VCP c.464G > A p.Arg155His M (LG), PDB 30 Gluteus medius
10 Unknown VCP n/a 1 n/a 1 M (LG), FTD 30 Biceps brachii
9 11 Mexican VCP c.476G > A p.Arg159His M (LG) Quadriceps
12 Mexican VCP c.476G > A p.Arg159His FTD, MND N/D
10 13 Unknown VCP c.572G > A p.Arg191Gln M (LG) Quadriceps
11 14 Unknown VCP c.572G > A p.Arg191Gln MND N/D
12 15 Unknown VCP c.1019A > G p.His340Arg M (LG) Biceps
13 16 Unknown VCP c.1156A > G p.Lys386Glu M (LG), PDB Quadriceps
14 17 African‐American VCP c.1160A > G p.Asn387Ser M (scapulo‐distal) 30 Gluteus medius
15 18 German, Dutch HNRNPA1 c.959A > T p.Asn320Ile M (distal) 29 Tibialis anterior
16 19 Norwegian SQSTM1 + TIA1

c.1160C > T (SQSTM1)

c.1070A > G (TIA1)

p.Pro387Leu

p.Asn357Ser

 M (scapulo‐distal) Tibialis anterior
17 20 Irish, Lithuanian SQSTM1 + TIA1

c.1165 + 1G > A (SQSTM1)

c.1070A > G (TIA1)

Splice donor A390X

p.Asn357Ser

 M (scapulo‐distal) Deltoid
18 21 Swiss SQSTM1 + TIA1

c.1175C > T (SQSTM1)

c.1070A > G (TIA1)

p.Pro392Leu

p.Asn357Ser

 M (distal), FTD 31 Deltoid
19 22 Unknown SQSTM1 + TIA1

c.1175C > T (SQSTM1)

c.1070A > G (TIA1)

p.Pro392Leu

p.Asn357Ser

 M (scapulo‐distal) 31 Tibialis anterior
20 23 Norwegian, Danish SQSTM1 + TIA1

c.1273G > A (SQSTM1)

c.1070A > G (TIA1)

p.Gly425Arg

p.Asn357Ser

 M (distal) N/D
21 24 Unknown MATR3 c.254C > G p.Ser85Cys M (distal) Tibialis anterior
22 25 Swedish TIA1 c.1150G > A p.Glu384Lys M (distal) Biceps brachii
23 26 Swedish TIA1 c.1150G > A p.Glu384Lys M (distal) N/D
24 27 German TIA1 c.1150G > A p.Glu384Lys M (distal), PN Tibialis anterior
25 28 Swedish TIA1 c.1150G > A p.Glu384Lys M (distal) N/D
29 Swedish TIA1 c.1150G > A p.Glu384Lys M (distal) Extensor carpi radialis
26 30

Unknown

 TFG c.854C > T p.Pro285Leu M (scapulo‐distal), MND, PN 17 Quadriceps
27 31 Norwegian, Portuguese HSPB8 c.577_580dupGTCA p.T194Serfs*23 M (LG) 20 Quadriceps

FTD, frontotemporal dementia; LG, limb‐girdle; M, myopathy; MND, motor neuron disorder; N/D, not done; PDB, Paget disease of bone; PN, peripheral neuropathy.

1

Genetic data not available as diagnosis were made postmortem. Patient 10 was patient 9's father.