Table 2.
Genotype –phenotype correlation of GSD II siblings
| II-1 | II-4 | II-5 | II-6 | II-7 | II-8 | II-9 | II-12 | II-13 | |
|---|---|---|---|---|---|---|---|---|---|
| c.118C > T[p.R40X] |
|
+ |
+ |
|
+ |
+ |
+ |
+ |
+ |
| c.2647-7G > A [p.N882fs] |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
| c.2276G > C [p.G759A] |
+ |
|
|
+ |
|
|
|
|
|
| ICA dilation |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
| Paraspinal muscle involvement |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
| LG-like + respiratory myopathy |
|
+ |
+ |
|
+ |
+ |
+ |
+ |
+ |
| Dolichoectasia of Basilar artery |
|
+ |
+ |
|
+ |
+ |
+ |
+ |
+ |
| Tongue weakness |
+ |
|
|
+ |
|
|
|
|
|
| Nasal speech | + | + |
The ID number of the patients was relative to the pedigree showed in Figure 2: ICA = Internal Carotid Artery; LG = limb-girdle.
With + is indicated the presence of mutations and/or symptoms.