Case25: Male, 2.7 yr onset, 3.5 yr diagnosis, 5.9 yr report

HPOsFreeText: FVC z-score sitting 0.34 (104% pred), FVC z-score supine 0.04 (100% pred), 87% MRC Scale, 908 CK U/l, 2.8 GAA activity (nmol/h/mg)^h from cultured fibroblasts

NotHPOsFreeText: No wheelchair used, No respiratory support

CaseOPOPD-50: Male, Taiwan, Birth diagnosis

HPOsFreeText: GAA (MS/MS) enzyme activity at 0.68 umol/hr/L

GenotypingMethod: GAA Gene Sequencing and PCR Amplification

Variant1: NM_000152.4:c.1634C>T (p.Pro545Leu)

ClinVar: 4032 https://www.ncbi.nlm.nih.gov/clinvar/variation/4032/

gnomAD: European (Finnish) 1.199e-4, Overall 1.774e-5 http://gnomad.broadinstitute.org/variant/17-78084822-C-T

Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele