Table 1.
Age and genotype of OPMD patients
| Genotype | Number of patients | Age (mean ± sem) | Biopsies from same patient | ||
|---|---|---|---|---|---|
| SCM/ CPM | SCM/DM | VLM/TAM | |||
| (GCN)10–11 | 1 | 80 | / | / | / |
| (GCN)10–12 | 4 | 73.8 ± 8.8 | / | / | / |
| (GCN)10–13 | 41 | 60.9 ± 9.3 | 2 | 1 | / |
| (GCN)10–14 | 8 | 67.1 ± 7.9 | / | 1 | / |
| (GCN)10–15 | 11 | 59.7 ± 10.6 | 5 | 1 | 1 |
| (GCN)10–16 | 4 | 51.8 ± 7 | / | / | 3 |
| (GCN)10–17 | 1 | 63 | / | / | / |
| (GCN)11–11 | 2 | 67.5 ± 0.7 | 1 | 1 | / |
| (GCN)13–13 | 1 | 47 | 1 | / | / |
Biopsy samples from OPMD patients have been collected in 4 different countries: France, Canada, Israel and The Netherlands. While most of the patients are heterozygous with a normal allele (GCN)10 and a mutated allele (GGN)n with n representing the number of (GCN) triplet expansion ranging from 11 to 17, 3 are homozygous (11–11 or 13–13). The number of patients for which several muscles have been biopsied is listed in the 3 last columns of the table
SCM sternocleidomastoid muscle, CPM cricopharyngeal muscle, DM deltoid muscle, VLM vastus lateralis muscle, TAM tibialis anterior muscle