A New Leu714Arg Variant in the Converter Domain of < em > MYH7 < /em > is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy

CONCLUSIONS: This case presents a new likely pathogenic variant in MYH7 and supports the hypothesis that myosin converter mutations constitute a subclass of HCM mutations with a poor prognosis for the patient.PMID:38538344 | DOI:10.31083/j.fbs1601001

Source: Frontiers in Bioscience - Scholar - March 27, 2024 Category: Biomedical Science Authors: Maria V Golubenko Elena N Pavlyukova Ramil R Salakhov Oksana A Makeeva Konstantin V Puzyrev Oleg S Glotov Valery P Puzyrev Maria S Nazarenko Source Type: research