Family 10 - Patient 10

FamilyPresentingHPOs: HP:0007340, HP:0003701, HP:0003327, HP:0040081, HP:0002111

HPOsFreeText: muscle pathology with vacuolar myopathy

FamilyNotHPOs: HP:0010628, HP:0002015, HP:0003691, HP:0003306, HP:0002650

Ethnicity: Iranian

ProbandLabel:

FamilyAddInfo: onset at 38yo, diagnosis at 50yo, MRC sum score = 73, patient required use of NIV

FamilyPreviousTesting: Respiratory Evaluation: FVC = 65%, CK = 551 U/L, muscle pathology examined, DBS enzyme activity (with inhibition) = 0.12 μmol/L/h

FamilyGenotypingMethod: GAA analyzed with Sanger Sequencing for entire coding region and conserved exon-intron splice junctions, PCR performed for deletion screening

VariantAllele1: NM_000152.4(GAA):c.-32-13T>G

Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

VariantAllele2: NM_000152.3:c.2596delG

CAID: CA891834514, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA891834514

gnomAD: n/a