CaseIII-1: 53 years old at time of report

DiseaseAssertion: Laing distal myopathy

FamilyInfo: Mutation in the MYH7 gene was cosegregated within the family members. In this family, the mutation segregated to the three affecteds, but not to any of the six unaffecteds

CasePresentingHPOs: HP:0008997, HP:0008994, HP:0009053, HP:0008959, HP:0100595

"Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Distal upper limb muscle weakness, camptocormia"

CaseHPOFreeText: hanging big toes and early involving neck flexors at the age of 8 years, atrophies in both sternocleidomastoid muscles, posture showed asymmetry of muscle atrophy, shoulder elevation

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: Level of serum creatine kinase was 534 IU/L (normal range < 185 IU/L). Echocardiogram and serum cardiac enzyme activity were normal. Needle electromyography showed generalized myopathic patterns, while nerve conduction studies were normal. "several functionally significant variants were identified from myopathy-related genes"

GenotypingMethod: whole exome sequencing, capillary DNA sequencing, and in silico analysis

Variant: NM_000257.3:c.4315G>C

ClinVar: 190404

CAID: CA347256

gnomAD: not found

Case: Patient 13, female, 59yo, symptom onset in adulthood

CasePresentingHPOs: HP:0003701, HP:0003306, HP:0003458 (proximal muscle weakness, rigid spine, EMG: myopathic abnormalities)

HPOsFreeText: normal CK levels, cores present on muscle biopsy

CaseNotHPOs: no respiratory or cardiac involvement

FamilyInfo: family history

DiseaseEntity: no assertion

InheritancePattern: no assertion

CasePreviousTesting: see below

CaseGenotypingMethod: 9 cases underwent targeted Sanger sequencing of MYH7, 12 cases underwent Motorplex analysis (NGS of 93 myopathy-related genes - PMID:25214167), all MYH7 variants confirmed via Sanger sequencing, segregation analysis performed on available family members, which cases received which sequencing technique is not specified

Variant: NM_000257.4(MYH7):c.4315G>C (p.Ala1439Pro)

ClinVar: 190404, https://www.ncbi.nlm.nih.gov/clinvar/variation/190404/

gnomAD: absent