Table 3.
Patient demographic information.
| Patient ID | Sex | Age at Sample Collection | Visit Number | Genotype | Ambulation Status |
|---|---|---|---|---|---|
| HIM003-13N-S1 | F | 45 | 1 | Ambulant | |
| HIM006-13N-S1 | F | 48 | 1 | Ambulant | |
| HIM007-13N-S1 | M | 45 | 1 | Non-Ambulant | |
| HIM008-13N-S1 | M | 43 | 1 | Non-Ambulant | |
| HIM009-13N-S1 | M | 54 | 1 | Ambulant | |
| HIM010-13N-S1 | M | 56 | 1 | c.650A>G:p.Tyr217Cys and c.2179G>A:p.Val727Met | Ambulant |
| HIM013-14N-S1 | F | 36 | 1 | c.650A>G:p.Tyr217Cys and c.2179G>A:p.Val727Met | Ambulant |
| HIM014-14N-S1 | F | 38 | 1 | c.2179G>A:p.Val727Met and c.1652G>A:p.Cys551Tyr | Non-Ambulant |
| HIM015-14N-S1 | M | 58 | 1 | Non-Ambulant | |
| HIM016-14N-S1 | F | 35 | 1 | c.830G>A:p.Arg277Gln and c.2179G>A:p.Val727Met | Ambulant |
| HIM017-14N-S1 | F | 30 | 1 | Ambulant | |
| HIM018-14N-S1 | M | 36 | 1 | Ambulant | |
| HIM019-14N-S1 | F | 47 | 1 | c.764C>T:p.Thr255Ile and c.764C>T:p.Thr255Ile | Ambulant-W/C |
| HIM020-14N-S1 | M | 35 | 1 | c.764C>T:p.Thr255Ile and c.764C>T:p.Thr255Ile | Ambulant |
| HIM021-15N-S3 | F | 41 | 3 | c.1225G>Tp:Asp409Tyr and c.1985C>T:p.Ala662Val | Ambulant |
| HIM023-15N-S1 | M | 50 | 1 | c.1985C>T:p.Ala662Val and c.1985C>T:p.Ala662Val | Ambulant |
| HIM024-15N-S1 | M | 34 | 1 | Ambulant | |
| HIM025-15N-S1 | F | 42 | 1 | Non-Ambulant | |
| HIM302-16N-S11 | F | 48 | 11 | Ambulant | |
| HIM303-16N-S10 | M | 29 | 10 | c.331G>T:p.Asp111Tyr and c.1853T>C:p.Ile618Thr | Ambulant |
| HIM304-16N-S11 | F | 51 | 11 | c.479G>A:p:Arg160Gln and c.922C>T:p:Arg308Trp | Ambulant |
| HIM305-15N-S2 | F | 38 | 2 | Ambulant | |
| HIM305-17N-S12 | F | 39 | 12 | ||
| HIM306-17N-S11 | F | 37 | 11 | Ambulant | |
| HIM309-15N-S1 | M | 31 | 1 | c.1664C>T:p.Ala555Val and c.1853T>C:p.Ile618Thr | Ambulant |
| HIM309-17N-S10 | M | 32 | 10 | ||
| HIM310-17N-S10 | F | 39 | 10 | c.2179G>A:p.Val727Met and c.1034C>T:p.Pro345Leu | Ambulant |
| HIM311-16N-S11 | M | 53 | 11 | c.841C>A:p.Leu281Met and c.1225G>T:p.Asp409Tyr | Ambulant |
| HIM312-17N-S13 | M | 56 | 13 | c.1225G>T:p.Asp409Tyr and c.2179G>A:p.Val727Met | Ambulant |
| HIM314-16N-S1 | M | 39 | 1 | c.705G>A:p.Trp235* and c.1096C>T:p.Arg366Trp | Ambulant |
| HIM315-17N-S10 | M | 53 | 10 | Ambulant | |
| HIM317-16N-S1 | M | 51 | 1 | c.1313dupT:p.Ser439Lysfs*6 and c.2179G>A:p.Val727Met | Ambulant |
| HIM320-16N-S1 | F | 32 | 1 | c.829C>T:p.Arg277Trp and c.1768G>A:p.Gly590Arg | Ambulant |
| Ambulant | |||||
| HIM306-15N- S4, HIM306-16N-S5,6,10 and HIM306-17N-S11-12 |
F | 35–37 | 4, 5, 6, 10, 11, 12 | Ambulant | |
| HIM307-16N-S4,5,6,10 and HIM307-17N-S11,12 | F | 37–39 | 4, 5, 6, 10, 11, 12 | Ambulant | |
| HIM311-16N- S4,5,6,10 and HIM311-17N-S11-12 | M | 52–53 | 4, 5, 6, 10, 11, 12 | c.841C>A:p.Leu281Met and c.1225G>T:p.Asp409Tyr | Ambulant |