Patient3: Female, 2mo at diagnosis, 5mo at ERT

CasePresentingHPOs:

HPOsFreeText: classic IOPD, moderate response to ERT, Pompe muscle pathology score = 1.4(a), 3.4(b), Glycogen = 19.5(a), 48.6(b) Vv(PAS + /mf)%, larger empty vacuoles = 10.2(a), 40.1(b) Vv (LEV/mf)%, Autophagic vacuoles = 0,27; 0 %/mf

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: biopsy taken from  musculus vastus lateralis

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: c.1859 G > A this is the variant listed in the paper, but I believe this is a typo as both Clinvar and the allele registry have this position listed as 'C' rather than 'G'

NM_000152.3:c.1859C>A

CAID: CA401369666, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3%3Ac.1859C%3EA

gnomAD: n/a

Variant2: NM_000152.4:c.2481+102_2646+31del (p.Gly828_Asn882del) (exon 18 del)

ClinVar: 4031, https://www.ncbi.nlm.nih.gov/clinvar/variation/4031/

gnomAD: n/a