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Table 2 Demographic information and reported clinical presentations of eight patients with causal variants in GAA

From: Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

Patient Sex Ethnicity Variant 1 Variant 2 Pace of progression Onset Serum creatine kinase Weakness Respiratory insufficiency Referred for treatment
3 Male German c.2331 + 2 T > A c.-32-13 T > G Slow progression Young adult Increased less than 10× Yes No Yes
5 Male Romanian c.2066_2070dupAGCCG c.-32-13 T > G Slow progression Middle age Increased more than 10× Yes No Yes
7 Female Serbian c.2269C > T c.-32-13 T > G Slow progression Middle age Increased less than 10× Yes No No
8 Female Serbian c.2051C > G c.-32-13 T > G Slow progression Late onset Normal Yes No No
17 Male Caucasian c.1192delC c.2716G > A Progressive Young adult Normal Yes Yes Yes (now ceased)
18 Female White British c.525delT c.-32-13 T > G Slow progression Middle age Increased more than 10× Yes No Yes
32 Male Caucasian c.525delT c.-32-13 T > G Non-progressive Childhood Increased less than 10× No No Yes
35 Male Caucasian c.569G > A c.2020C > G Progressive Young adult Increased less than 10× Yes No Yes