Case: Patient UK1-IV:1, female, 31yo, Caucasian, Irish ancestry

CasePresentingHPOs: HP:0040083, HP:0002650, HP:0001508, HP:0011471, HP:0002093, HP:0002877, HP:0001620 (toe-walking, scoliosis, poor weight gain, Feeding problem necessitating gastrostomy tube feeding, respiratory impairment, nocturnal hypoventilation, high-pitched voice)

HPOsFreeText: scoliosis required spinal fusion surgery, required nocturnal BiPAP ventilation in adolescence, reduced muscle bulk

Muscle biopsy showed variability in myofiber size, uniformity of type I myofibers on ATPase, moth-eaten appearance of myofibers

CaseNotHPOs:

FamilyInfo: non-consanguineous family

CasePreviousTesting: 32 Illumina genes

CaseGenotypingMethod: NGS (Illumina gene panel) or 32 genes previously associated with congenital myopathies, Sanger sequencing to confirm recessive inheritance

InheritancePattern: autosomal recessive

DiseaseEntity:

Variant 1: NM_000257.3:c.4699C>T (p.Gln1657Ter), maternal

CAID: CA389037829, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389037829

gnomAD: n/a

Variant 2: NM_000257.4(MYH7):c.4664A>G (p.Glu1555Gly), paternal

ClinVar: 181261, https://www.ncbi.nlm.nih.gov/clinvar/variation/181261/

gnomAD: n/a