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

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....

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Detalles Bibliográficos
Autores principales: Naderi, Niloofar, Mohsen-Pour, Neda, Nilipour, Yalda, Pourirahim, Maryam, Maleki, Majid, Kalayinia, Samira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10552240/
https://www.ncbi.nlm.nih.gov/pubmed/37794383
http://dx.doi.org/10.1186/s12872-023-03538-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10552240/
https://www.ncbi.nlm.nih.gov/pubmed/37794383
http://dx.doi.org/10.1186/s12872-023-03538-8

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