A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Ingrid BaderM FreilingerF LandauerS WaldmüllerW Mueller-FelberC RauscherW SperlR E BittnerW M SchmidtJ A MayrPublished in: Orphanet journal of rare diseases (2022)
The data presented here expand the phenotypic spectrum of mutations in the MYH7 gene and have implications for future diagnostics and therapeutic approaches.
Keyphrases
- amino acid
- hypertrophic cardiomyopathy
- left ventricular
- electronic health record
- current status
- copy number
- late onset
- binding protein
- genome wide
- optic nerve
- big data
- case report
- cord blood
- genome wide identification
- muscular dystrophy
- machine learning
- early onset
- transcription factor
- genome wide analysis
- gene expression
- artificial intelligence
- optical coherence tomography
- duchenne muscular dystrophy