Research Paper Volume 12, Issue 5 pp 4268—4282

GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease


Figure 1. Genetic pedigree of the family and the WGS analysis workflow. (A) Genetic pedigree of the family. II-2 is the proband; II-3 is the female patient; her child III-2 has abnormal biochemical index. The age of each family member is indicated as grey. The genotype of each family member is listed in the lower panel. (B) Workflow of the WGS analysis.