Table 1.
Age at biopsy, biopsy site, MTM1 mutation, clinical course, and morphometry data in 15 XLMTM patients.
| ID | Age at Biopsy | Biopsy Site | MTM1 Mutation | Clinical Course | H&E Morphometry Mean±SD (μm) |
|---|---|---|---|---|---|
| 92-1 | 15 d | RQ | c.1467delG
pLys490ArgfsX12 |
Died, 7.5w | 8.7±2.5 |
| 113-1 | 21 d | NR | c.445_678del
p.Pro149-Pro226del loss of exons 7 & 8 |
Died, 2y 3m | 9.5±2.5 |
| 206-1 | 1 m | LQ | c.232-1G>A involves AG acceptor site in intron 4 | Stable, 3 y11m | 7.9±1.7 |
| 262-1 | 7m 1w | RQ | c.444G>C loss of exon 6 | Stable, 8y | ND |
| 447-1 | 6 d | RQ | c.961_962delTT
p.leu321lysfsX10 |
Stable, 4y 1m | 8.3±2.3 |
| 462-1 | 22 d | LQ | c.601delT
p.Leu201PhefsX49 |
Died, 5w | 6.1±1.8 |
| 504-2 | 11 d | LB | c.593_594insA
p.Tyr198X |
Died, 6y 2m | 10.3±2.6 |
| 592-1 | 1m 3w | NR | c.1304_1306delCTC
p.Pro436del |
Died, 3m | 9.7±2.4 |
| 93-1 | 1 m | NR | c.205C>T
p.Arg69Cys |
Stable, 16m | 9.9±2.6 |
| 169-1 | 3m 1w | NR | c.205C>T
p.Arg69Cys |
Stable, 11y 11m | 10.5±2.8 |
| 171-1a | 8 d | LQ | c.205C>T
p.Arg69Cys |
Stable, 14y 10m | 14.9±3.8 |
| 171-1b | 3.3 y | RQ | - | - | 12.0±6.1 |
| 189-1 | <9 m | NR | c.679G>A
p.Val227Met |
Stable, 18y | 8.7±2.8 |
| 205-1 | 1 y | RQ | c.1262G>A
p.ArgR421Gln |
Died, 2y | 9.7±2.9 |
| 765-1 | 2 m | LD | c.779A>C
p.Tyr260Ser |
Stable, 23y | 14.3±3.9 |
| 798-1 | 29 d | RQ | c.1406A>G
p.His469Arg |
Died, 5m | 9.7±3.5 |
Abbreviations: d, days; H&E, hematoxylin and eosin; LB, left biceps; LD, left deltoid; LQ, left quadriceps; m, months, ND, not determined since only fixed H&E stained sections were available; NR, not recorded; RQ, right quadriceps; w, weeks; y, years. For reference, quadriceps myofiber size in unaffected infants is 10–12 μm (31, 32). MTM1 reference sequence NM_000252, with cDNA sequence numbered relative to A of initiator methionine.