18
Case18: Female, Unknown years onset, Unknown years diagnosis, 25 years report
CasePresentingHPOs: HP:0003325, HP:0003327, HP:0003236 (Limb-girdle muscle weakness, Axial muscle weakness, Increased serum CK)
CaseAddInfo: Late-Onset Pompe Disease
2 Matching Annotations
- Last 7 days
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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www.sciencedirect.com www.sciencedirect.com
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4
Case#: 4, age 24, age 18 (report)
DiseaseAssertion: Pompe Disease
FamilyInfo: Family 4, no further information
CasePresenting HPOs:HP:0012378, HP:0003546, HP:0001324 (fatigue, exercise intolerance, muscle weakness)
CaseHPOFreeText: vacuolar myopathy biopsy PAS +
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting: single gene sequencing/analysis, 40.54 NaG/AaGIA, 90.54% inhibition of GAA; NaG/AaGIA above 40 and %INH above 87 are in the affected range
Variants:
Variant 1:NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
ClinVar: 189009
Variant 2: not reported
ParentalGenotypes: N/A
PreviouslyPublished: N/A
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