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Article

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

BMC cardiovascular disorders - 4 Oct 2023

Naderi Niloofar, Mohsen-Pour Neda, Nilipour Yalda, Pourirahim Maryam, Maleki Majid, Kalayinia Samira

Abstract excerpt

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 region. In this study, we performed clinical and molecular examinations of the proband of an Iranian family with MSM in an...

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Identifiers

PMID: 37794383
DOI: 10.1186/s12872-023-03538-8
PMCID: PMC10552240

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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