Case#: Subject number 2, 37 years

DiseaseAssertion: Late Onset Pompe disease

FamilyInfo: N/A

CasePresentingHPOs: HP:0008994 (proximal muscle weakness in lower limbs), HP:0003325 (limb-girdle muscle weakness), HP:0003701 (proximal muscle weakness), HP:0003691 (scapular winging), HP:0002355 (difficulty walking).

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: Serum creatin kinase was 7.7 μkat/l

glucosidase activity: Whole uncoagulated blood samples used for leukocyte and DNA isolations.

GAA activity (w/o acarbose) 35 nmol.h.mg–1 (control 37±14).

8 nmol.h.mg–1 (with acarbose) (control 16±6).

Ratio of with/w/o acarbose is 0.24 (control 0.42±0.08).

Variant 1: NM_000152.5(GAA):c.-32-13T>G

Variant 1 ClinVarID: 4027

Variant 1 CAid: CA116606

Variant 2: NM_000152.5(GAA):c.1456G>C

Variant 2 ClinVarID: N/A

Variant 2 CAid: CA401366835

Zygosity: compund heterozygous

ParentalGenotype: N/A

PreviouslyPublished: N/A