A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy

A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy

Abstract Background The MYH7 gene, which encodes the slow/ß-cardiac myosin heavy chain, is mutated in myosin storage myopathy (MSM). The clinical spectrum of MSM is quite heterogeneous in that it ranges from cardiomyopathies to skeletal myopathies or a combination of both, depending on the affected...

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Bibliographic Details
Main Authors: Niloofar Naderi, Neda Mohsen-Pour, Yalda Nilipour, Maryam Pourirahim, Majid Maleki, Samira Kalayinia
Format: Article
Language:English
Published: BMC 2023-10-01
Series:BMC Cardiovascular Disorders
Subjects:
MYH7
Whole-exome sequencing
Myosin storage myopathy
Dilated cardiomyopathy
Myosin
In silico
Online Access:https://doi.org/10.1186/s12872-023-03538-8

Internet

https://doi.org/10.1186/s12872-023-03538-8

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