Patient5: Female, 4.5mo at diagnosis, 5mo at ERT

CasePresentingHPOs:

HPOsFreeText: classic IOPD, poor response to ERT, Pompe muscle pathology score = 1.7, Glycogen = 26.9 Vv(PAS + /mf)%, larger empty vacuoles = 9.9 Vv (LEV/mf)%, Autophagic vacuoles = 2,91 %/mf

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: homozygous variant, biopsy taken from  musculus vastus lateralis

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant: NM_000152.3:c.1456G>C

CAID: CA401366835, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401366835

gnomAD: n/a