Case: Male, 4yo

CasePresentingHPOs: HP:0001324, HP:0001270, HP:0006830, HP:0003458, HP:0000467, HP:0003547, HP:0002650 (muscle weakness, delayed motor development, congenital hypotonia, Myopathic electromyogram, neck muscle weakness, shoulder girdle muscle weakness, scoliosis)

HPOsFreeText: sporadic congenital muscle weakness, decreased cardiac pump function, perinatal encephalopathy, rolled over at 7mo, left ventricular dilation, normal total creatine phosphokinase, unspecified muscle atrophy shown in histological exam, signs of dropped head syndrome, gluteal and quadricep muscle weakness, axial weakness distribution. At 4yo: weight = 14kg, height = 104cm, ejection fraction = 56%, able to walk if head is supported, preserved emotional and intellectual development

CaseNotHPOs: HP:0002098, HP:0002015, HP:0001635 (breathing difficulties, dysphagia, heart failure)

DiseaseEntity: DCM

InheritancePattern: not specified

FamilyInformation: family not consanguineous, no history of progressive muscular disorders or cardiomyopathy, pedigree in Fig. 1

CasePreviousTesting: WES

CaseGenotypingMethod: genomic DNA extracted from white blood cells of proband and parents, WES, confirmed findings in proband, parents and siblings via PCR-based bidirectional Sanger sequencing, abnormal MYH7 transcript confirmed in vivo by RT-PCR, paternity and maternity confirmed by multiplex STR typing of 15 loci

Variant: NM_000257.3:c.5655+5G>C, confirmed de novo by parental testing

No ClinVar or CAID