Table 2.
Molecular genetics findings
| Patient | Adjusted-age | MTM1 mutations | Exon | Notes and references |
|---|---|---|---|---|
| 1 | 34 w | c.638T>C; p.Leu213Pro | 8 | This paper, missense mutation first described. Note 1: protein not detected on Western blot analysis. |
| 2 | 35 w | c.1464-1467delACAG; p.Gln489Argfs X12 | 13 | Patient FS30 in Buj-Bello et al. (2002). |
| 3 | 36 w | c.1354-1 G>A | 13 | This paper. |
| 4 | 36 w | c.141-144delAGAA; p.Glu48Leufs X24 | 4 | This paper. |
| 5 | 37 w | MTM1: c.137-?_(*3357_?)del and MTMR1: c.(?_-136)_(*2596_?)del | 4–15 | This paper. Note 2: deletion exons 4–15 of MTM1 and deletion of MTMR1. Detected in his mother's DNA. |
| 6 | 37 w | c.1279delA+c.1333-1345del13 | 12 | Patient FN86 in Buj-Bello et al. (2002). |
| 7 | 39 w | c.1260-10A>G; p.FIQ420-421 ins | 12 | Patient JH64 in Biancalana et al. (2003). |
| 8 | 39 w | c.343-2A>C | 6 | This paper. Note 3: Detected in his affected brother's DNA. |
| 9 | 39 w | c.343-2A>C | 6 | Patient CU15 in Laporte et al. (1997). |
| 10 | 0 m 7 days | c.526C>T; p.Gln176X | 7 | Patient GF36 in (Biancalana et al. (2003). |
| 11 | 0 m 15 days | c.-10-?_678+?del | 2–8 | Patient CM73 in Laporte et al. (1997). Note 4: deletion exons 2–8 of MTM1. |
| 12 | 0 m 21 days | c.205C>T; p.Arg69Cys | 4 | This paper. |
| 13 | 1 m 15 days | c.1261C>T; p.Arg421 X | 12 | This paper. |
| 14 | 2 m | c.535C>T; p.Pro179Ser | 8 | Patient EO38 in Buj-Bello et al. (2002). |
| 15 | 3 m 7 days | c.1395-1397dupAAT; p.lle466dup | 13 | This paper. |
MTM1, myotubular myopathy; w, weeks; m, months.