Patient35: male, Caucasian

CasePresentingHPOs: HP:0003676, HP:0003236, HP:0003325, HP:0008994, HP:0003458, HP:0003560, HP:0030121

HPOsFreeText: CK < 10x increase, difficulty ascending stairs, inability to stand without aid, treated with ERT

CaseNotHPOs: HP:0002093

CaseAddInfo: onset as young adult. Older sister also affected with onset at 21 yo. She now exhibits scoliosis, fatigability, paraspinal muscle atrophy, proximal upper limp atrophy, and weakness. Calpain deficiency detected via immunoblot could be connected to CAPN3 variants (p.Gly333Asp [c.998G > A] and p.Ala726Ser [c.2176G > T]).

CasePreviousTesting: same as group, EMG, muscle biopsy, immunoblot analysis

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.569G>A (p.Arg190His)

ClinVar: 188809, https://www.ncbi.nlm.nih.gov/clinvar/variation/188809/

gnomAD: 8.276e-06, http://exac.broadinstitute.org/variant/17-78079570-G-A

Variant2: NM_000152.3:c.2020C>G

CAID: CA401370092, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401370092

gnomAD: n/a