A rare form of LIM domain-binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4.
Clin Genet
; 2024 Jul 11.
Article
en En
| MEDLINE
| ID: mdl-38992921
ABSTRACT
Polymorphisms in LDB3 gene can cause various forms of cardiomyopathy and myofibrillar myopathy 4 (MM4). Patient described in this study presented with a hypertrophic cardiomyopathy (HCM) and distal myopathy suggestive of myofibrillar myopathy 4. Genetic analysis using the TruSight Cardio Sequencing Kit (Illumina) revealed suspected LDB3 variant (c.1435G>A, p.(Gly479Arg)). This is the first case in which polymorphism in LDB3 gene is likely responsible for MM4 and HCM in the same patient.
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1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Clin Genet
Año:
2024
Tipo del documento:
Article
País de afiliación:
Croacia