Case#: 6, female, 45 yr at onset, 66 yr at diagnosis

DiseaseAssertion: Myopathy

FamilyInfo: N/A

CasePresentingHPOs: HP:0100595, HP:0003202, HP:0003715, HP:0100301 (Camptocormia, skeletal muscle atrophy, myofibrillar myopathy, muscle fiber tubular inclusions)

CaseHPOFreeText: muscle atrophy specifically paraspinal, no clinical signs of the atrophy

CaseNotHPOs: HP:0003701, HP:0000508, HP:0000602, HP:0002015 (proximal muscle weakness, ptosis, ophthalmoplegia, dysphagia)

CaseNotHPOFreeText: No ALS, MG, or Parkinson's disease

CasePreviousTesting: spinal cord imaging, EMG, deltoid muscle, repetitive nerve stimulation, intravenous Prostigmin therapeutic text, screening for anti-ancetylcholine receptor and anti-muscle specific kinase antibodies, left deltoid muscle biopsy

CaseGenotypingMethod: N/A

Variant: NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)

ClinVar: 177697 https://www.ncbi.nlm.nih.gov/clinvar/variation/177697/

CAID: N/A

gnomAD: 0.0001316 (European/non-Finnish) https://gnomad.broadinstitute.org/variant/14-23884434-C-T