Patient10: Female, 1.5mo at diagnosis, 2mo at ERT

CasePresentingHPOs:

HPOsFreeText: classic IOPD, good response to ERT, Pompe muscle pathology score = 0.2, Glycogen = 3.1 Vv(PAS + /mf)%, larger empty vacuoles = 0 Vv (LEV/mf)%,

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: homozygous, biopsy taken from  musculus vastus lateralis

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: NM_000152.3:c.1157_1158insA

CAID: CA658655614, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658655614

gnomAD: n/a