CaseII2: 65 year old male

DiseaseAssertion: left ventricular non compaction cardiomyopathy

FamilyInfo: three family members presenting with the same MYH7 mutation

CasePresentingHPOs: HP:0012764, HP:0002515, HP:0003376, HP:0003307, HP:0003391, HP:0003547

"Orthopnea, Waddling gait, Steppage gait, Hyperlordosis, Gowers sign, Shoulder girdle muscle weakness"

CaseHPOFreeText: shortness of breath during exertion, foot drop, At lower limbs weakness and hypotrophy were severe in distal muscles and moderate in proximal muscles

CaseNotHPOs:

CaseNotHPOFreeText:

CasePreviousTesting: molecular analysis for ACTA1 and ITGA7 was performed, resulted negative. Molecular analysis for DES, LMNA and MYH7 genes were carried out

GenotypingMethod: mutation screening, primers flanking the intron-exon junctions of each MYH7 exon, the 5′ and 3′ UTR

Variant: NM_000257.4:c.5401G>A

ClinVar: 43069

CAID: CA016087

gnomAD: not found