Case#: Case III-2, female, 74, early adulthood onset

DiseaseAssertion: Congenital Fiber Type Disproportion

FamilyInfo: Family A, late-onset weakness in her deceased mother (II-5) and maternal aunt (II-4), and lifelong weakness in her older sister (III-3)

CasePresentingHPOs: lower limb muscle weakness, gait disturbance, hearing loss, psoriasiform dermatitis, osteoarthritis, glaucoma, hypertension, muscle dystrophy, left ventricular diastolic dysfunction, hyperlordosis, genu recurvatum, proximal lower limb amyotrophy, foot dorsiflexor weakness, hip flexor weakness (HP:0007340, HP:0001288, HP:0000365, HP:0003765, HP:0002758, HP:0000501, HP:0000822, HP:0003560, HP:0025168, HP:0003307, HP:0002816, HP:0008956, HP:0009027, HP:0012515)

CaseHPOFreeText: Pes cavus and hammertor deformities, bilataeral steppage in gait,

CaseNotHPOs: N/A

CaseNotHPOFreeText: myotatic reflexes normal, ECG normal, normal NCS, no fibrillation potentials, sharp waves, or myotonic discharges

CasePreviousTesting: Analysis was negative for sequence variants affecting other congenital myopathy genes associated with CFTD pathology including ACTA1, RYR1, SEPN1, TPM2, and TPM3

CaseGenotypingMethod: neurological examination, serum creatine kinase (60 unit/L), nerve conduction studies, concentric needle electromyography (early recruitment of small polyphasic MUAP in diffuse pattern), electrocardiogram, echocardiogram, forced vital capacity (2.13% (76)), muscle biopsy, immunohistochemical analyses,

Variant: NM_000257.4(MYH7):c.484T>G (p.Tyr162Asp)

ClinVar: 525040 https://www.ncbi.nlm.nih.gov/clinvar/variation/525040/

CAID: N/A

gnomAD: absent