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

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.

ISSN: 1750-1172