Case#: Case III-2, female, 64 yr, early childhood onset

DiseaseAssertion: None

FamilyInfo: Family C, her mother (II-1) and maternal grandmother (I-1) had late-onset leg weakness (Fig. 1C), her brother (III-4) had severe generalized weakness and was diagnosed with an unspecified muscular dystrophy

CasePresentingHPOs: Gait disturbance, lower limb muscle weakness, hypertension, osteoarthritis, hyperlipidemia, glaucoma, neck flexor weakness, weakness of facial musculature, weakness of long finger extensor muscles, foot dorsiflexor weakness (HP:0001288, HP:0007340, HP:0000822, HP:0002758, HP:0003077, HP:0000501, HP:0003722, HP:0030319, HP:0009077, HP:0009027)

CaseHPOFreeText: mild heel cord contractures, mild eye closure weakness, unable to stand on heels, limb weakness

CaseNotHPOs: Scoliosis, scapular winging, generalized muscle hypertrophy (HP:0002650, HP:0003691, HP:0003720)

CaseNotHPOFreeText: hand or foot deformities, normal knee bend and stand on tiptoes, normal reflexes and sensory

CasePreviousTesting: N/A

CaseGenotypingMethod: neurological examination, serum creatine kinase, nerve conduction studies, concentric needle electromyography, electrocardiogram, echocardiogram, forced vital capacity, muscle biopsy, immunohistochemical analyses, CK 156 unit/L (n < 143), FVC 2.13 L (68%), ECG and echo normal, left ventricular ejection fraction 65%, normal NCS except low-amplitude peroneal and tibial compound muscle action potential, abnormal increase of small polyphasic MUAP in tibialis anterior, no fibrillation potentials, no positive sharp waves, no myotonic discharges

Variant: NM_182476.3(COQ6):c.115G>A (p.Val39Met) & NM_000257.4(MYH7):c.4844_4846AGA[2] (p.Lys1617del)

ClinVar: 214236 https://www.ncbi.nlm.nih.gov/clinvar/variation/214236/ & 190401 https://www.ncbi.nlm.nih.gov/clinvar/variation/190401/

CAID: N/A

gnomAD: 0.00006720 African https://gnomad.broadinstitute.org/variant/14-74417150-G-A & absent