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Table 2 Genotypephenotype correlation of GSD II siblings

From: Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

  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 +    +      
  1. The ID number of the patients was relative to the pedigree showed in Figure 2: ICA = Internal Carotid Artery; LG = limb-girdle.
  2. With + is indicated the presence of mutations and/or symptoms.