Case1: Female, 33 yrs report

DiseaseAssertion: MYH7 Gene-Related Skeletal Myopathy

FamilyInfo: Uneventful family history

CasePresentingHPOs: HP:0002650, HP:0001324, HP:0001263, HP:0001252, HP:0006794, HP:0002652, HP:0002751, HP:0002094, HP:0003121, HP:0003044, HP:0006471, HP:0003273, HP:0008112 (Scoliosis, Muscle weakness, Global developmental delay, Muscular hypotonia, Loss of ability to walk in first decade, Skeletal dysplasia, Kyphoscoliosis, Dyspnea, Limb joint contracture, Shoulder flexion contracture, Fixed elbow flexion, Hip contracture, Plantar flexion contractures)

CaseHPOFreeText: EMG: short duration, small amplitude motor unit action potential (MUAP), and early recruitment patterns were observed in the involved proximal muscles

CaseNotHPOs: HP:0001239, HP:0012785, HP:0002127, HP:0100543 (Wrist flexion contracture, Flexion contracture of finger, Abnormal upper motor neuron morphology, Cognitive impairment)

CaseNotHPOFreeText: No significant abnormal findings during the perinatal period and at the time of birth

CasePreviousTesting: SMN 1del/dup test was performed and no specific findings were observed, Physical exam, serologic test, and neurophysiologic test, including nerve conduction study (NCS) and electromyogram (EMG), were performed, On the manual muscle test (MMT) she received a grade of 4 for wrist flexor, extensor muscle, finger flexor, and extensor muscle, and a grade of 1 for all other upper and lower limb muscles, Cobb angle was 126° at the time of measurement, NGS using a targeted gene sequencing panel analyzing 293 genes performed using 2 x 150 bp in the paired-end mode of MiSeq platform from Illumina

CaseGenotypingMethod: Chromosomal microarray was performed with no abnormal findings. A NGS study was then performed on the proband using a targeted gene sequencing panel for neuromuscular diseases. Genomic DNA was extracted and captured, with massively parallel sequencing and subsequent reading and annotating/filtering of any located variants.

Variant: NM_000257.4:c.1495_1497delGAG (p.Glu500del)

ClinVar: 525034

gnomAD: Not in gnomAD